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: CA023585 183126
VCEP: Familial Hypercholesterolemia VCEP
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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_000527.5(LDLR):c.1784G>A (p.Arg595Gln) | Pathogenic | hypercholesterolemia, familial | 2022-07-11 | 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.1784G>A (p.Arg595Gln) | Pathogenic | hypercholesterolemia, familial | 2022-02-07 | 1.0 | - | LDLR |
Showing 1 to 2 of 2 rows