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: CA10585682 252114
VCEP: Familial Hypercholesterolemia VCEP
Showing 1 to 3 of 3 rows
See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_000527.5(LDLR):c.1927G>C (p.Ala643Pro) | Uncertain Significance | hypercholesterolemia, familial | 2024-09-24 | 1.2 | - | LDLR |
| View | NM_000527.5(LDLR):c.1927G>C (p.Ala643Pro) | Uncertain Significance | hypercholesterolemia, familial | 2024-09-24 | 1.1 | - | LDLR |
| View | NM_000527.5(LDLR):c.1927G>C (p.Ala643Pro) | Uncertain Significance | hypercholesterolemia, familial | 2024-09-09 | 1.0 | - | LDLR |
Showing 1 to 3 of 3 rows