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: CA023721 3739
VCEP: Familial Hypercholesterolemia VCEP
Showing 1 to 5 of 5 rows
See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
---|---|---|---|---|---|---|---|
View | NM_000527.5(LDLR):c.551G>A (p.Cys184Tyr) | Pathogenic | hypercholesterolemia, familial | 2024-12-02 | 1.4 | - | LDLR |
View | NM_000527.5(LDLR):c.551G>A (p.Cys184Tyr) | Pathogenic | hypercholesterolemia, familial | 2024-10-11 | 1.3 | - | LDLR |
View | NM_000527.5(LDLR):c.551G>A (p.Cys184Tyr) | Pathogenic | hypercholesterolemia, familial | 2022-04-22 | 1.2 | - | LDLR |
View | NM_000527.5(LDLR):c.551G>A (p.Cys184Tyr) | Pathogenic | hypercholesterolemia, familial | 2022-04-22 | 1.1 | - | LDLR |
View | NM_000527.5(LDLR):c.551G>A (p.Cys184Tyr) | Pathogenic | hypercholesterolemia, familial | 2022-04-22 | 1.0 | - | LDLR |
Showing 1 to 5 of 5 rows