The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries.
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Curation History
Variant: CA10578350 233215
VCEP: InSiGHT Hereditary Colorectal Cancer/Polyposis VCEP
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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_000038.6(APC):c.3084T>A (p.Ser1028Arg) | Likely Pathogenic | familial adenomatous polyposis 1 | 2023-03-14 | 1.0 | - | APC |
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