id stringlengths 43 56 | task stringclasses 3
values | question stringlengths 8.53k 16.6k | prompt_suffix stringclasses 3
values | prompt stringlengths 8.65k 16.6k | options listlengths 2 6 | answer_index int64 0 5 | answer_text stringclasses 10
values | gold_answer_json stringclasses 10
values | messages listlengths 2 2 | source stringclasses 1
value | variation_id stringlengths 3 7 | allele_id stringlengths 5 7 | assembly stringclasses 1
value | chrom stringclasses 23
values | pos int64 131k 247M | ref stringclasses 4
values | alt stringclasses 4
values | label_raw stringclasses 6
values | review_status stringclasses 3
values | n_submitters int64 1 54 | origin stringclasses 1
value | variant_type stringclasses 1
value | window_bp int64 8.19k 8.19k | variant_index_0based int64 8.19k 8.19k | variant_position_1based int64 8.19k 8.19k | variant_window_placement stringclasses 1
value | ref_seq_sha256 stringlengths 64 64 | var_seq_sha256 stringlengths 64 64 | ref_is_a stringclasses 3
values | excluded_from_benchmark_eval bool 1
class | benchmark_exclusion_status stringclasses 1
value | benchmark_exclusion_manifest stringclasses 1
value | label_binary stringclasses 2
values |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
clinvar-1111994-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to C.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to C.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 1111994 | 1094294 | GRCh38 | 5 | 179,272,921 | G | C | Likely benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | ecd66cdf171ad249de3b73c8c2eb90686e94b95611fa5fab73c1224d2ff71b8b | 5db306330ecd8dc2276d2ff5757a21c91f68a286bacc94d4a633c3b9ec8d653e | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-625444-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele A is changed to T.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele A is changed to T.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 625444 | 613750 | GRCh38 | 11 | 66,510,705 | A | T | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | c078940187629cacb884e91648774df2bf6c8a722f1bd83fae772a2cc8acec86 | 38afca5aa35a421c89ebe0d2c9d964adce1b43a324fc6455bfee5e8b18afaa9d | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-1579962-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele A is changed to T.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele A is changed to T.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 1579962 | 1599381 | GRCh38 | 8 | 19,405,961 | A | T | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 4 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 5df0a0b9ccdc55b784743506da64a4611e1f54de50d7870f6354e284fdfe2a53 | 70d0bc489612a09d7e451d360c031a80254fc244584eb8394327c0cf9efe4dc4 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-182000-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele A is changed to T.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele A is changed to T.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 182000 | 180479 | GRCh38 | 11 | 108,310,287 | A | T | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 8 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 34ec017cadbb039915411b99de359d77a739e9af382da08ae994618198af9574 | 77655ba651060f1d3eca90bd29d7a6356b54eebd99c3fac303618f98b01a0cb1 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-1293511-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele A is changed to G.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele A is changed to G.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 1293511 | 1283316 | GRCh38 | 3 | 4,645,864 | A | G | Benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | d92b9d86c14d8a7329947743969102da0d9736c02560fbbc0ab19291f68ec352 | dba566647c5278710311336ff0ff715d9683b6f8c4495d5faa412337421a8533 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-388566-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to A.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to A.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 388566 | 369914 | GRCh38 | 7 | 66,629,196 | G | A | Likely benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 586896d543b609c7e4fe4bb951709f00b09b85a2aff84d7b90f0b9ee236e14c2 | 524b3d2923bf28b28b76783234e051f9d76f623468fd0496f0dec428bc108f29 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-449901-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele A is changed to C.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele A is changed to C.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 449901 | 443041 | GRCh38 | 2 | 166,056,471 | A | C | Pathogenic | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 9e9a36ef56110000838741f7cfc0814f8f7a2777f8c8faf9c7a94cff0976f742 | 947562bde8b3bbfe7f242367a462f353fd878e90d50a4cb4a59fa1fb63084500 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-257463-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to A.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to A.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 257463 | 252664 | GRCh38 | 7 | 16,421,256 | C | A | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 9 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | f6ddc57aa0177d483d7b9c454e0a6917eba238bdfe6ba4d840997c9029a674c0 | 9dd02551968e28eb06ad8863402a19a053b2cd2dc111066d75cc1501d8d2ada8 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-502067-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele T is changed to C.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele T is changed to C.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 502067 | 493491 | GRCh38 | 20 | 10,652,465 | T | C | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | d5584404aae3f266756e5de965446eb402397463e01d5b8c3a166c4ea47715b3 | c57ad3f919fad31d6ed3235c611fc8d42c3255fd3ccef5b8863d1a6e92ffbdb9 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-101153-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to A.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to A.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 101153 | 106898 | GRCh38 | 2 | 189,001,450 | G | A | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 3 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 4e042a3e45936d6914eba11f03b9600585328febb38afe90603f24a08aa314b4 | eebb2284a0e52fc1d46db0bc128ee57d98c3d4c63c7af914caa57aeb6cf76b3a | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-768284-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to G.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to G.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 768284 | 700956 | GRCh38 | 9 | 21,207,006 | C | G | Benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | be4b4420b1b4d4c6766d084d9b9b6318816a44bb49662e92750919bd087095a3 | bb65b016c0fb30a5122db688a0f75c8e2e19376d97ddb23e8f0d8d8781700d39 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-378937-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 378937 | 371492 | GRCh38 | 11 | 533,906 | C | T | Likely benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 2327123c8316ef62c07cb2eddab97abbc731b4552745bbd42927e269d47364ca | c7a4dc982db846d8668eabce66c97bb32332907291e24f47b39f7c342fb0a935 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-1113722-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele A is changed to G.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele A is changed to G.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 1113722 | 1094738 | GRCh38 | 6 | 112,117,743 | A | G | Likely benign | criteria provided, multiple submitters, no conflicts | 3 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | cea0dd310b81bb7e351ac5825bb57bd5f410cddc9395dc2e620c4047ea93a96e | 11c995bbfc9977b9132ae4894c807bcecc497a16186b985602855a8f79b2913f | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-1234967-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele T is changed to C.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele T is changed to C.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 1234967 | 1222797 | GRCh38 | 22 | 19,480,129 | T | C | Benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | cc102a11acaf074363256c48085e39077f37c0e31bb7e0e959957d6ce219312e | 121c63000b4f2651270a42cd537c72347aec15b3955ecd39a122e356686e074b | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-436548-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to A.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to A.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 436548 | 429961 | GRCh38 | 17 | 30,971,417 | G | A | Benign | criteria provided, multiple submitters, no conflicts | 6 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | bba71d01d27da9e4bac6bc5eeba54d9b1bf9561031b2e9db1f6f7432e84f2b90 | 0701250a9a52af25dfc5fb3e314921d245bebff4e74764ffcaba824af651be29 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-309706-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele A is changed to G.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele A is changed to G.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 309706 | 325826 | GRCh38 | 12 | 52,813,792 | A | G | Benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 7b87afe4d2889339c9ea009636ce5de09b4c12bd211ea6d5338c274317048fdd | d26e8b95870833f449b4933a91da6eff10b6654a2bcbbe9c308d6b49735a6547 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-297951-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 297951 | 281068 | GRCh38 | 1 | 6,469,127 | C | T | Likely benign | criteria provided, multiple submitters, no conflicts | 5 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 3124d8ebe96fb97e76dd15cf7076ba4dc4836d3a4c6885ce565e8b9e812ce097 | 54cf4afc8f747c18c18ca2eac1d4c807366e3bd6a635d92db316acd37c8c1535 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-1078117-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to A.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to A.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 1078117 | 1069712 | GRCh38 | 2 | 47,800,329 | C | A | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 3 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 46bf55016392f8cf20bb76beaed843ffeb3cae0494055afe2711994cb155fe0f | 50e1c9a2df44486488a6b31640eedbc56fcc8fe5146eb8dd276eeb96ead38150 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-310386-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele A is changed to G.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele A is changed to G.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 310386 | 326588 | GRCh38 | 12 | 71,979,082 | A | G | Benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 9c88a95197d3b6b79fa9d4c5f52d43ee4ea70f64ac64051634d455b1ecf7d466 | 2724f93bf43344547890e411ea118923919fd29a0ebc0620b82eaae22b76bbc7 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-2086993-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to G.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to G.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 2086993 | 2141034 | GRCh38 | 17 | 31,340,578 | C | G | Pathogenic | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 2aa91717e5d812fa7abd040958c88ca7677b5bbb3a5d4a8c5d9573eb201e808c | d142b97a954be668241da279cd6a241c2e15b2478d792ce4d1bb95c54673ce55 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-433260-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 433260 | 426965 | GRCh38 | 16 | 16,182,497 | C | T | Pathogenic | criteria provided, multiple submitters, no conflicts | 3 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 50af2a458573367be3f9846d02456da6669c686614504576be2a242601118ee7 | 3056bae6adf37737eec93cdb3c203845e3b5198c9e16dd3481084a9d8e948dde | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-348980-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele A is changed to G.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele A is changed to G.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 348980 | 293703 | GRCh38 | 4 | 5,565,256 | A | G | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 8 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 8ccff6f95404ed2244e9eeb9c8ca19b2ee362b7880515287b23cccc69a73952a | b33336c801fa5795c6b14fba9c559a8fb6c4b991e5a4a535bcf319b25bca4f87 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-490679-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele A is changed to C.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele A is changed to C.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 490679 | 484410 | GRCh38 | 11 | 108,244,812 | A | C | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 4 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 833528d44901e99e1e96d0d5909cd64fdebf2b41042a40b2032424dabdb52628 | ff3a57e9bcd92eb59d770bbc26992191d290c6986cd010936565a3aa98c111b1 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-1297413-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to T.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to T.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 1297413 | 1287202 | GRCh38 | 20 | 17,990,233 | G | T | Benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 909322ee882307aa079df7671b39e3e6fd14ec2cb8e4ec15532021814805fa1b | 3e10cc32793d5ee1910ac0583f9fbf0b57fe33d2841f2de47196789c90bb3b22 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-504714-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele T is changed to G.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele T is changed to G.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 504714 | 497131 | GRCh38 | 10 | 53,809,118 | T | G | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 6 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 1d5b62be2eec5762e2a272086b14cee5839faccc9ada9b2a29848e476ecbe202 | 151acdc88b69b8dc6a9779b282629cbb2f61f6bde1b7dc8dfa94c57bed2545b1 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-539075-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to A.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to A.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 539075 | 519056 | GRCh38 | 3 | 123,666,227 | G | A | Pathogenic | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 65182f947f088640c98d357cbc49e0f08727ff594c68dc72efabd3f25fd05d67 | da34ac2c17a15ec539fdf16dd1558fa2ec721fff8e3588acb6b380851531ee4c | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-552657-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to A.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to A.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 552657 | 546821 | GRCh38 | 12 | 102,866,662 | C | A | Likely pathogenic | reviewed by expert panel | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | b3ea45ffc23c14c10529e876da081fc9c5e16d9d04baa5f2b2c1b125ec722240 | 6293e299737f7253b0556c9dc1ec53f72f7ec6809c46c399e1a2346b6ba80ea1 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-3432268-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele T is changed to C.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele T is changed to C.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 3432268 | 3593464 | GRCh38 | 10 | 43,128,164 | T | C | Likely benign | criteria provided, multiple submitters, no conflicts | 3 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 96ad1dc44fc197787ef2812c6e6655e8a29a170cec31bf040a9c5badb1dd6a38 | 2389e4535e96a19f1a0c485cd591e5249914216dca01bdc7080ecb024ecbdc0c | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-1236464-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to A.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to A.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 1236464 | 1228173 | GRCh38 | 9 | 2,170,372 | G | A | Benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 2a69e58dc69b0f15db3f929558158eed3c5b86dc6bfe61087d7a62159e191895 | b6afa860890fdeeac112b639e7e57d6719a6287258a05b4357590f8923719116 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-699573-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele A is changed to G.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele A is changed to G.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 699573 | 688171 | GRCh38 | 13 | 48,342,606 | A | G | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 4 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | c5ae227ae37f6690017376752f14101b5aa3cc0303087c577b7a8cefbb955020 | c44a473120dab038ad2ae6b701a89f623948b2ccadebbb4c3024e5b9cce28dfa | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-777308-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to C.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to C.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 777308 | 704682 | GRCh38 | 18 | 76,956,173 | G | C | Benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | c8c12e67f9b715386e8f43478686e83bd790ecdaf44456aa35b1bb4d55ffd779 | 64dc3fd07f64f26ce7334022486be33c25660dddcc89df70552a4227b6197dba | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-47953-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to A.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to A.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 47953 | 57117 | GRCh38 | 16 | 21,730,867 | G | A | Benign | criteria provided, multiple submitters, no conflicts | 5 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 575c8e6d93c6b7f025965b3b3b9b76db0878070bd5c1cc879388a1ac3969a96b | ab1879948d1558f45d560bc0b96f0b65f8a53d65b4c00ab9517f0fa7d78d22cf | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-550815-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 550815 | 544468 | GRCh38 | 7 | 117,602,729 | C | T | Likely benign | criteria provided, multiple submitters, no conflicts | 3 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 9eb759556d45088e3beed3bce3f3fe11b83023e48d8041e9ec6158eef87700c0 | 95e097033550d74b110872c6804cf628a84ed9fbab5795a19af20b94d71ae83f | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-1655190-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to G.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to G.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 1655190 | 1549763 | GRCh38 | 11 | 108,293,366 | C | G | Likely benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 02739b17c9e4cd9b0f64f7d30e03fd7aab45dd26ba35e6950ea30054930f4009 | 8dc48910351f765d792f3e08acb735fe2fd00ca1649a3794323425b34824cf62 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-439897-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 439897 | 433691 | GRCh38 | 1 | 11,997,315 | C | T | Pathogenic | criteria provided, multiple submitters, no conflicts | 3 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 59c1a408a7a186597393767da4d9a8e16c34aeff3238f5a21045c5ec8dbfa5fc | 1a35d5af0028910a02e9f82daa890005b957b9e59fe2a09b3e21346cd8f49b66 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-1672658-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele T is changed to C.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele T is changed to C.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 1672658 | 1616913 | GRCh38 | 4 | 125,317,896 | T | C | Likely benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 909d21ba97571a549ee6a72077871de8728bd7582127030ceba79e53acdb7911 | 3eee55a8508c7d2691de32aa53c6a84609add570b24e0580073076a60d784239 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-2774375-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to A.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to A.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 2774375 | 2935103 | GRCh38 | 1 | 237,723,184 | G | A | Likely benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | e4615884e100ecd2fcf9cc884132f1576cc68d82289b427409b83ec263217624 | dc5dacae9372e4309a7b0b8e71e5b95b6af26647d9297410b03a84d762111236 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-623368-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to C.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to C.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 623368 | 612304 | GRCh38 | 14 | 24,082,510 | G | C | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | c6f7e49876eef172620d1d9095c829fb9f44aa97fffb2eb1a5d4be72304b9d4f | 742e63ead04a19a189a416f7c1d9c93223450a5c2b8cd4f532175535d7b5443b | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-2718350-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to T.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to T.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 2718350 | 2880593 | GRCh38 | 20 | 34,942,502 | G | T | Likely benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | b0e47008d6d195582ef7f1b959be1da435353803921bf7726009e7d58b32be3a | d213043442a7391a63816b06d950b42a17cd0c2920b83d2261c3cc0f2fe29fcc | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-54988-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele A is changed to T.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele A is changed to T.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 54988 | 69655 | GRCh38 | 17 | 43,091,778 | A | T | Pathogenic | reviewed by expert panel | 4 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 279ac156e1e29cf0634de827eaa650e5e0a855dbcf3994bb4df96a82c4e8a0ca | b5b56181faf39ecc84f8574559488790e498e89926982dbdab7c85ee2d710d04 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-2925-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele A is changed to T.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele A is changed to T.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 2925 | 17964 | GRCh38 | 5 | 134,607,010 | A | T | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 4 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 3c7bd0bfb84e73c5a60658a234f256f543c94ca67e5cd6b1f1782872c497ccba | ed6e5fa4c4a26de5a1ef01e986904cd7621cef8b405052135d03c1725eb24a25 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-1329009-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to A.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to A.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 1329009 | 1319696 | GRCh38 | 17 | 1,775,915 | G | A | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | f008f3fc6c9f291fc9d0355177e7f2bd2e1c28538061bce2d7166e63d1b54e50 | d0a2ade74604d8606c7120248d96ae43e503d2211b71d9c06555acfaefb082f1 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-260732-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to A.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to A.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 260732 | 253948 | GRCh38 | 10 | 94,324,942 | G | A | Likely benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 34654e71af61d9d9b5c5a68c054c7e7ec727fd145aa17d62d4bc539df46d4f48 | aaa1b801f914ef5ce2bde86f062cadb269587f3a7c199a39d6f1ed1dd45007fa | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-1778304-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele A is changed to T.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele A is changed to T.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 1778304 | 1834277 | GRCh38 | 3 | 36,996,671 | A | T | Pathogenic | criteria provided, multiple submitters, no conflicts | 3 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 39afe621994b04e3263484289f823b1eca1528d33eb9469d608b7cdaf3900df0 | 3dfd8878998fcd385087339c8afdc2463a6dceeb98779558c1637585e111af7e | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-811600-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele T is changed to A.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele T is changed to A.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 811600 | 799358 | GRCh38 | 4 | 47,643,167 | T | A | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 4 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 586a3b3440e99bc22e07341bbfd442fb62ba02dcfa0861b108ff71208ef98dbe | ef10a0e9000f864d4935d77f9019972388df4b21e3aeb04ec755d19c1d7f1054 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-252029-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to T.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to T.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 252029 | 246329 | GRCh38 | 19 | 11,116,937 | G | T | Likely pathogenic | reviewed by expert panel | 3 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 80ce439891aaffec33543e6d0e6a3ba5762ce50517ba4ced43694b290d3cd4bf | 27801a9a5503d48acfede61656ff307ebb6839ee593dd64d734ce570f977b8e9 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-2691840-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 2691840 | 2852844 | GRCh38 | 12 | 120,993,639 | C | T | Pathogenic | reviewed by expert panel | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | a276f9e689470fac8d6caa9cf69ffd27006ad13011f793bb303ee4dbca8d79c1 | 50c5a75ac2823fbe3f2376ca83b8687b4872c1752a770b078f16ce908aac4d18 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-694-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to A.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to A.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 694 | 15733 | GRCh38 | 9 | 133,539,799 | G | A | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 4 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 9c786329e90dbb3f05f1b2095230f4f4acf826a08858c93ea75108dd8f0c7170 | 6826e692568be5b9fd44170e4995cdc4ba6ff9794bc006e208ee390932a47e5d | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-1120233-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to A.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to A.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 1120233 | 1109135 | GRCh38 | 7 | 41,972,441 | G | A | Pathogenic | criteria provided, multiple submitters, no conflicts | 5 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 26a4a4e51ff499630a8c1d7008c5a253cff6ed426bf5db6abdd92715ac689ab2 | f98cdd7e6fc2b6659e839f9a67ffd22a93dad14da830ab6df38d50b3135d162a | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-513592-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to G.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to G.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 513592 | 500313 | GRCh38 | 3 | 128,910,157 | C | G | Likely benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 071e2bf55733f1a4e1141c7c99e0f0b5033f5eeeaf74c05efcc2ead64506f689 | 5b578e179c6662e56d793f16225b60ba457fc6a1ab82e7adb816309a2edfa011 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-503712-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele A is changed to G.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele A is changed to G.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 503712 | 495363 | GRCh38 | 15 | 89,218,563 | A | G | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 6 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | b71d868eaab041f5a42be3e0f530bdba48b67a9a34743e239ba56a0cf015c788 | 8c27bfc08921a799d6a5de964224e0e983ff763c81184a6f6dc1e6323115b2ed | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-1179129-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to T.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to T.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 1179129 | 1168621 | GRCh38 | 2 | 227,297,791 | G | T | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 3 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | c6ea0c2dba2aadf66e0f668bf8663cb49319a9ddf4df312b4164d261ab4b8c17 | 2fa6149c3cd30c51b1058363275cc470ddac6165ffc0555401b147ec559346cb | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-623247-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele A is changed to G.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele A is changed to G.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 623247 | 612210 | GRCh38 | 12 | 56,172,426 | A | G | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 3 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 726f39eb893b9b584cf286007b62051dc05105390ad98338b5c2f03daab07ec1 | 0cb7565b56fd9e0e18b3f508d0accc22298c3b851f9f1e74da50013238d626b7 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-1275464-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele T is changed to A.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele T is changed to A.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 1275464 | 1264719 | GRCh38 | 20 | 2,616,323 | T | A | Benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | b5f047530c0562159e1d1f00027a2c2ffb0a20c1117e68eb3f4a75b14042d5b5 | 4e103034a1056f0f31ee12435e8d108e99795b5a47627a5ccc7ac58e790df807 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-1915112-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to A.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to A.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 1915112 | 1974035 | GRCh38 | 19 | 35,846,104 | G | A | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 3 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 78c03993c210d5085169d065627731b60a291c937c5bb212e46191397647ec10 | 8f0095529bad47e0cdac24d912c8a497f346fa9737ff21308cc15815c36c0cab | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-844755-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to A.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to A.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 844755 | 823366 | GRCh38 | 1 | 21,577,499 | G | A | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 8 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 1155ff2cd08cf6cf7be0e99b04fc384c14e3e063ee33c7dd6fbe65596bee3e64 | 55ec4fc447c9bbeea2c9640afe44c5fd86b2fb9fd7ae2503973a6065ca5e7958 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-806156-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele A is changed to C.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele A is changed to C.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 806156 | 794730 | GRCh38 | 1 | 94,000,896 | A | C | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | b464d7f49ee77df0918848c5d64dd41f18c33f6fb8ee22e05dc02053f71f6380 | 5f9475ab1b3178d74cd2d587ac2fa13bc8154bba47e1954ed91cb5a6ef9ce109 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-5045-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele A is changed to G.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele A is changed to G.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 5045 | 20084 | GRCh38 | 12 | 53,309,624 | A | G | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 12 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 0c46c326f889ee4ac44836cbf5fbc68fe46e3e06202eb7a8f9b0e332df3b898c | d93aaa7338a4247116d489977d57c7f6fb79816b3c8e51a8771fc3786947d038 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-716056-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 716056 | 718410 | GRCh38 | 1 | 179,551,434 | C | T | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 8 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | bc047017cd0556ab69a9df7612d2dcf998e01e5fa0dc7aae1d1b6fa2339fc3e6 | 1069e0a3c02a49245bee21db775ddb132791cd8898d8cf79a96b207af481167e | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-137516-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele T is changed to C.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele T is changed to C.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 137516 | 141219 | GRCh38 | 12 | 13,675,725 | T | C | Benign | criteria provided, multiple submitters, no conflicts | 4 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 8b500dcd81d9da1ae32f64232cab78450a5e50e3d63b51aade87c2586c5cd85a | 534fa2ae569fe3c8570ecd9bf28668ab24ae471398b7b683e50c23a5981193a0 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-673884-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele A is changed to T.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele A is changed to T.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 673884 | 663861 | GRCh38 | 9 | 397,050 | A | T | Benign | criteria provided, multiple submitters, no conflicts | 3 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 069f2d3743574fc605d6855e92b8393213e4341b3e391c140561f35e9ce522e3 | dda1279a0c10ab494f4af03a8dd65af73fe36b4df86659cbe5e4d65ba0c7fee7 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-35727-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to A.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to A.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 35727 | 44391 | GRCh38 | 13 | 51,937,470 | G | A | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 18 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 3d8f36de061804726902753ad0dba7ad5bb58434fbc774bef3554e548d73f7d0 | e387df3a7279e24866677134dba6e1dd5ac24570a75aaf9c2aba4aff1ade6b43 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-558788-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 558788 | 549500 | GRCh38 | 1 | 155,238,194 | C | T | Pathogenic | criteria provided, multiple submitters, no conflicts | 3 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 2590631ad37295c5bc0b99bc3a343f0bc817bbf3cc886f52395c6fc69af5ed4b | 7a173d8e1aaab36834cadcfc473a057140742f4557bf905d14f3c9a4dcffbb4a | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-475538-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to A.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to A.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 475538 | 452749 | GRCh38 | 3 | 47,042,635 | G | A | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 4 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | ebe232634b756e3fe9386c46abf08dbbe9ba7fbce1ffcda2e0a27a77b88af63d | 6f26c012d37a44094192e9919775e49f45225958c2c8255f32f95d5c69eff524 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-1678812-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 1678812 | 1670606 | GRCh38 | 10 | 8,064,130 | C | T | Pathogenic | criteria provided, multiple submitters, no conflicts | 4 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | c7fe2b5f3013699a4067ec0cb39f76609cc0aacfbee81bb3c10dcd817c9796b7 | 87b97c74e96b14116d393bd445010d3bc2fc9640e25a3c7440a72efc1872a238 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-1323463-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 1323463 | 1313748 | GRCh38 | 6 | 51,847,813 | C | T | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 3070aa9d86aca1109259b5ec484116e72d79b4bbee58ac242dd1ebb32bc4977c | 115866ea245cf90670873c315abcae078e26064846713680c4f8d6600cf65fa3 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-1069210-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele T is changed to C.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele T is changed to C.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 1069210 | 1065532 | GRCh38 | X | 85,956,380 | T | C | Pathogenic | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | a465c96785232c2a536dbb3426563364bcb2ab833c4edece99517fa3590db356 | 8deb75aa4fb8bd989cc800a377984aa92b417005502cda73eb416fca93487d9d | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-1217886-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele T is changed to G.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele T is changed to G.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 1217886 | 1207869 | GRCh38 | 11 | 9,785,470 | T | G | Likely benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | d537aedef55b3eb72d72c833fd4ee3deaad3f4f94a8b3b7107c6efa54f487c22 | dce1431975f22be6f140a2484cb0251fc0125967149061b37d30a5e60b477b9f | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-460937-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele A is changed to G.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele A is changed to G.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 460937 | 466215 | GRCh38 | 16 | 23,629,835 | A | G | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 7 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 7e674267e0159ace446ad2cf2401fa29eb0c69f8b4942fc2b15be964cc1c1a85 | bd9849b17a7cb8160dce51d01fc7f3457ab2b3100ec9e5c9e5d0b2b40f127a32 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-3361931-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to A.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to A.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 3361931 | 3521141 | GRCh38 | 3 | 9,938,107 | G | A | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 82bf13d0b7acb4dba8282fd210c13f1d234648835e232d5baa0fcdba7b242bac | 7e472eb41c58aeae79c24d5ff65d90cecc1fdbb2d0c2d23b0bb52049438653eb | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-476278-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to A.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to A.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 476278 | 447438 | GRCh38 | 1 | 179,917,634 | G | A | Likely benign | criteria provided, multiple submitters, no conflicts | 8 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | c3f34a917e3e50e434ec04fce777ede81afa8e6735c0ee514104d3e6da8409d5 | 40a9b01b76797b80f7b23609afb049ef6f18dc0de155427f2ac0ba62a5cd53bb | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-2049198-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele A is changed to C.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele A is changed to C.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 2049198 | 2110967 | GRCh38 | 22 | 28,719,393 | A | C | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 2ec693cbb720fa19e605c42ccd8ecbb254bc7b495664ffa9deedefd6f2f74e19 | a31174433bbdbf133001719db2f6a3fd37fc8fba626f36460e3b1b648ae9b1f9 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-923283-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to T.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to T.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 923283 | 909050 | GRCh38 | 2 | 47,806,257 | G | T | Pathogenic | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 4571bb7f22b56e250685d79c2770480fd4015ac6d2c530a25cc1e7a85a2ee141 | e1da4cececce89f6072b42dc7ae08dfa2d5aea0687803af331728c8263181769 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-2577214-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele T is changed to C.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele T is changed to C.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 2577214 | 2742113 | GRCh38 | 9 | 134,784,975 | T | C | Likely benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | bed181a084ffa801549fe8e67077372b88dea4239d378cb3b5ddf27c43a75ee7 | c600d5e571c9130d81973282ea20c58462c18144e2c75b9007b602a1446fa431 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-43597-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to G.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to G.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 43597 | 52766 | GRCh38 | 3 | 10,142,041 | C | G | Pathogenic | reviewed by expert panel | 12 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | c1dd514540419f2f638fbd2c71afce6477281eb4d86c7cb80843146c0285983f | 6a2ebebb74eab8ffdcc9b9504005336adf7dea93b1b1d48050cafeb7b8e13e6d | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-133061-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to A.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to A.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 133061 | 136809 | GRCh38 | 19 | 38,577,955 | G | A | Pathogenic | reviewed by expert panel | 12 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 2646227bc91d1c0f04574a2ce5b26d6fe58eb47df25bb4ca9d4176ee333ccb06 | 98f2998cae7ffc58939739383942a2dd59beab5e1000e47d42867bb50ea77fe0 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-232569-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele T is changed to A.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele T is changed to A.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 232569 | 233238 | GRCh38 | 5 | 132,557,455 | T | A | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 3 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 0e83cb87c461d5efbed96db2c0b63fb30450dc541cc3d6b8cda7bf1bc14678e3 | ccf45cc21334bc6f830321e361c37b112cdb57c76cc2ddcafe7991dbe7886b0e | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-534806-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 534806 | 534234 | GRCh38 | 22 | 31,766,651 | C | T | Pathogenic | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 0dec3dd20d1b3b6c2f61d714d4c6dc8a58bd5faa9a57b056b4a8d2293778f9c7 | efece7e15862f94e100ec73cead83aa0e72867bc7def73298230bf867465ddfe | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-1338767-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 1338767 | 1329803 | GRCh38 | 7 | 76,330,151 | C | T | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 5 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | fcd423c0b68bc194c7b26535712782c7592e7b81bfa6b23ee377b622ad6d4445 | df885f2b93475d94bcdad6aba37acd0976ebbb18b142e7b8a60c8133866ad65e | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-180018-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele A is changed to G.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele A is changed to G.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 180018 | 174842 | GRCh38 | 9 | 69,252,903 | A | G | Likely benign | criteria provided, multiple submitters, no conflicts | 3 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | b29a97615b10499099cd37f4e6341986d2507e69cc7f333b74f68c87f72ec2e3 | e2ea97e0a3eccd3d96dd5f7aa8b5848ef0938768832dd99e0b201432dd3cea90 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-133353-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele T is changed to C.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele T is changed to C.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 133353 | 137092 | GRCh38 | 8 | 89,980,895 | T | C | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 3 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 12c5874f59b7526950b1b7f58f0bb348e3b0170f89f5141377372465742f9b1d | 9cb9a8ea620a37ca285ab1c70fade8018657edc12c25604544fb3a5662ebe401 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-235066-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to T.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to T.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 235066 | 236816 | GRCh38 | 18 | 31,595,246 | G | T | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 3 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 1f8b35e5590473f225d8f9ae5e8c4680217a738daa5f3356606529fd330ff15a | b80a4de89336c6f2cf70f20c5c6505ff752730d55df156698370f479db2410b4 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-718958-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to C.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to C.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 718958 | 718053 | GRCh38 | 1 | 10,653,867 | G | C | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 1933f7d7eb7a90c0e114c8a9dfbe964c81ad82b5dff399eb544ada7c048b20d8 | 476041dcbb7b0ed527101aa29d5f30e223d477385cb22dc38412c480d10e6ee1 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-660662-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 660662 | 631234 | GRCh38 | 3 | 37,025,931 | C | T | Pathogenic | criteria provided, multiple submitters, no conflicts | 4 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | a5c513fa47efd86fdd31ddbcab8d30cd3ef4fe2a1271cafc4a9a30dc44604f0d | 26c3b56d01bdfb199bc06aeda1dc424afe1fa7222a3c101bf7371d51ac2f1b0a | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-2048811-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele T is changed to C.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele T is changed to C.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 2048811 | 2114455 | GRCh38 | 15 | 89,646,028 | T | C | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 894d44cae672525489ed96625487be3ba1eaffa0bbcedcdbe3e501d97e761912 | db43ddfe980ecc15c17ee85f8185f1148dce1aba76ac9f453a974fde14da9c9e | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-555574-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to A.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to A.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 555574 | 544578 | GRCh38 | 7 | 66,087,780 | G | A | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 10 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 2a1b50a486b1e2da44b5b2c4eef2402b8cae549e9425010a8a87a7d12e181bee | fc55b9752ec718a2024055f3c29e459698c1a77761c59155976ba165bf915e16 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-1180913-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to G.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to G.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 1180913 | 1171939 | GRCh38 | 9 | 134,812,774 | C | G | Benign | criteria provided, multiple submitters, no conflicts | 3 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 720d05335430c7d53f19588bc9312c258679fee722cd25b698562126509a1502 | 1d35011c44e68401d89dba10f4fb6cf3b73baddf360655654872369245ab3c4b | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-1687368-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to A.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to A.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 1687368 | 1679661 | GRCh38 | X | 38,286,742 | C | A | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | ddda015bb7a8187c4293bcaa6826089eefaafe9a838ff6a50c56af9c97507785 | a182828fc95a4978d7a4daba279119f660bc58af9051ceefcfaaa7274ff08a28 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-440041-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to G.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to G.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 440041 | 433793 | GRCh38 | 16 | 88,717,041 | C | G | Benign | criteria provided, multiple submitters, no conflicts | 6 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 595e3c31935c9e915f399be2aec73af9e67bb3c5315095b816d2e6241488a797 | 78d30b2e81635d626d52aa5f22f8403b7b21bd81db4105d1863d3c4671e095c5 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-680298-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 680298 | 667590 | GRCh38 | 14 | 87,950,900 | C | T | Benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | bac25a7a8955625b342722743248cf7353de7d79268ca5f0c14dcc69fe7925be | 5457357074809e92089c6fdfd09e02879c682741a2cbe3c3ed8f8034a680a71a | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-1243578-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele A is changed to G.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele A is changed to G.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 1243578 | 1233066 | GRCh38 | 18 | 3,094,133 | A | G | Benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 67b62c7b7a3ff9b6754bd7023c75d29f4b5107009cedfe05ae8157277b92407e | 2175cf5ed25f3c6a574d75ccf9b0a15e8869ec15b058fc7d506b8bc25e4898ed | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-1585944-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to A.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to A.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 1585944 | 1593589 | GRCh38 | 1 | 230,710,560 | G | A | Likely benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | acd5dde3298fa61815e3525792bc101b38f2a549fc9e8ec96dadbd04b64403da | 567209335ec25da09546207d3cde557ea7eaebb8bd0df9c7e3721c09b5669e5e | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-1290890-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to C.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to C.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 1290890 | 1280718 | GRCh38 | 15 | 40,026,187 | G | C | Benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 10d9408c2230567ca8af2168e5f4d2860268138518c665f49c4e96ab77e12c57 | 53badae1128b09968bbd6654875e137dc59aaceabcb2f8e0512234ad9aa72756 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-1745537-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 1745537 | 1802589 | GRCh38 | X | 101,401,667 | C | T | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 3 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 17afb7bc34791c8cf11c47151d95053b2a29c06188c6690da60f00fc8996bafd | 65b2ba3b3dfc8a96c120b7a45cbb86875892cf6664ff694720dbfe8ff9e901c1 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-3241647-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to C.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to C.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 3241647 | 3400625 | GRCh38 | 17 | 80,110,055 | G | C | Likely pathogenic | reviewed by expert panel | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 75aff012632c6803741c2c147fd7391721065581bb75815f2db5a1748ce6ffe6 | a55812cc900ccf821ed617feb1e0ec0a915b24030c0f7906e61941c8bdd0f02b | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-66460-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to A.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to A.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 1 | pathogenic or likely pathogenic | {"clinical_significance":"pathogenic or likely pathogenic"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 66460 | 77357 | GRCh38 | 17 | 44,915,279 | G | A | Pathogenic | criteria provided, multiple submitters, no conflicts | 6 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 9922912b5955e76999a5f64547856567d52c5b6e48a25e9865bf8727333bc759 | 5dd448d930c6cd59fd8ac8e25d3942ca2af4fe0dd04f446f1e47fadae4084254 | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | pathogenic or likely pathogenic |
clinvar-211027-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 211027 | 208890 | GRCh38 | X | 147,944,969 | C | T | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 9 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | cf3dcea544eed7d237dec8874c492d90176f7419283e9a5b0cb92e0d13d7475e | 590bc2989aaeb70316410451d804ea1b4d107ae8b799113fdcaa0456bc77db3f | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-753612-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele A is changed to G.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele A is changed to G.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 753612 | 766984 | GRCh38 | 9 | 108,897,276 | A | G | Likely benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | aa36f7a18e76abea590a8414394732262fe4b28674b214efa2ec3cb9d09d233d | ce922009c03f63080c15dc9bc63da445ecacfd656a418f3b8ba590f7bdded8bf | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-780325-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele C is changed to T.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 780325 | 707197 | GRCh38 | 1 | 231,336,773 | C | T | Benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 3024b8455d2d179dc96814932c9b2bb23f8dc80b4da290ceeac3a4396b481ca6 | 45cb1047c8dff0b0044aaa699e0a701393e39717c08d7a54fce8f0cd7327693e | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
clinvar-783997-clinical_classification::binary | binary | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to A.
Alterna... | Options:
- benign or likely benign
- pathogenic or likely pathogenic
Answer with exactly one option. | Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.
The variant is at position 8192 in the sequence, using 1-based indexing. At that position, the reference allele G is changed to A.
Alterna... | [
"benign or likely benign",
"pathogenic or likely pathogenic"
] | 0 | benign or likely benign | {"clinical_significance":"benign or likely benign"} | [
{
"role": "user",
"content": "Given a human single-nucleotide variant and the DNA sequence context containing the alternate allele, classify the variant as benign/likely benign or pathogenic/likely pathogenic.\n\nThe variant is at position 8192 in the sequence, using 1-based indexing. At that position, the ... | clinvar_variant_summary | 783997 | 708806 | GRCh38 | 3 | 38,010,476 | G | A | Benign | criteria provided, multiple submitters, no conflicts | 2 | germline | single nucleotide variant | 8,192 | 8,191 | 8,192 | final | 6531bf4a94d9d5a736f2bc85658abd0c4f62a4826ae3a75baaa21d31c1d17f45 | 000c9533b79b3a20ebcb47657d0b899b325e19cb541895d5a90b75e30e51bddb | not_applicable | true | checked | /fsx/georgia_channing/vep_sft/manifests/carbon_eval/carbon_vep_eval_manifest.jsonl | benign or likely benign |
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