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.97C>T (p.Gln33Ter) | Pathogenic | hypercholesterolemia, familial | 2024-12-02 | 1.2 | ClinGen Familial Hypercholesterolemia Expert Panel Specifications to the ACMG/AMP Variant Classification Guidelines Version 1.2 | LDLR |
| View | NM_000527.5(LDLR):c.97C>T (p.Gln33Ter) | Pathogenic | hypercholesterolemia, familial | 2024-10-11 | 1.1 | - | LDLR |
| View | NM_000527.5(LDLR):c.97C>T (p.Gln33Ter) | Pathogenic | hypercholesterolemia, familial | 2022-04-30 | 1.0 | - | LDLR |
Showing 1 to 3 of 3 rows