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: CA042227 225097
VCEP: Familial Hypercholesterolemia VCEP
Showing 1 to 2 of 2 rows
See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
---|---|---|---|---|---|---|---|
View | NM_000527.5(LDLR):c.190+4A>T | Likely Pathogenic | hypercholesterolemia, familial | 2022-07-12 | 1.1 | ClinGen Familial Hypercholesterolemia Expert Panel Specifications to the ACMG/AMP Variant Classification Guidelines Version 1.1 | LDLR |
View | NM_000527.5(LDLR):c.190+4A>T | Likely Pathogenic | hypercholesterolemia, familial | 2022-03-30 | 1.0 | - | LDLR |
Showing 1 to 2 of 2 rows