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: CA044327 226333
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.682G>T (p.Glu228Ter) | Pathogenic | hypercholesterolemia, familial | 2022-04-30 | 1.0 | - | LDLR |
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