Showing 1 to 2 of 2 rows
See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_000527.5(LDLR):c.259T>C (p.Trp87Arg) | Uncertain Significance | 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.259T>C (p.Trp87Arg) | Uncertain Significance | hypercholesterolemia, familial | 2022-01-01 | 1.0 | - | LDLR |
Showing 1 to 2 of 2 rows