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: CA038175 252173
VCEP: Familial Hypercholesterolemia VCEP
Showing 1 to 9 of 9 rows
See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_000527.5(LDLR):c.2023G>A (p.Gly675Ser) | Likely Pathogenic | hypercholesterolemia, familial | 2024-09-19 | 1.8 | - | LDLR |
| View | NM_000527.5(LDLR):c.2023G>A (p.Gly675Ser) | Likely Pathogenic | hypercholesterolemia, familial | 2024-09-19 | 1.7 | - | LDLR |
| View | NM_000527.5(LDLR):c.2023G>A (p.Gly675Ser) | Likely Pathogenic | hypercholesterolemia, familial | 2024-09-19 | 1.6 | - | LDLR |
| View | NM_000527.5(LDLR):c.2023G>A (p.Gly675Ser) | Likely Pathogenic | hypercholesterolemia, familial | 2024-09-19 | 1.5 | - | LDLR |
| View | NM_000527.5(LDLR):c.2023G>A (p.Gly675Ser) | Likely Pathogenic | hypercholesterolemia, familial | 2024-09-19 | 1.4 | - | LDLR |
| View | NM_000527.5(LDLR):c.2023G>A (p.Gly675Ser) | Likely Pathogenic | hypercholesterolemia, familial | 2024-09-19 | 1.3 | - | LDLR |
| View | NM_000527.5(LDLR):c.2023G>A (p.Gly675Ser) | Likely Pathogenic | hypercholesterolemia, familial | 2024-09-19 | 1.2 | - | LDLR |
| View | NM_000527.5(LDLR):c.2023G>A (p.Gly675Ser) | Likely Pathogenic | hypercholesterolemia, familial | 2024-09-19 | 1.1 | - | LDLR |
| View | NM_000527.5(LDLR):c.2023G>A (p.Gly675Ser) | Likely Pathogenic | hypercholesterolemia, familial | 2024-09-13 | 1.0 | - | LDLR |
Showing 1 to 9 of 9 rows