The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries.
[Disclaimer]
Curation History
Variant: CA10585480 251870
VCEP: Familial Hypercholesterolemia VCEP
Showing 1 to 1 of 1 rows
See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_000527.5(LDLR):c.1495T>C (p.Ser499Pro) | Likely Pathogenic | hypercholesterolemia, familial | 2024-10-07 | 1.0 | ClinGen Familial Hypercholesterolemia Expert Panel Specifications to the ACMG/AMP Variant Classification Guidelines Version 1.2 | LDLR |
Showing 1 to 1 of 1 rows