Showing 1 to 1 of 1 rows
See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_000527.5(LDLR):c.1800G>C (p.Glu600Asp) | Uncertain Significance | hypercholesterolemia, familial | 2025-02-13 | 1.0 | ClinGen Familial Hypercholesterolemia Expert Panel Specifications to the ACMG/AMP Variant Classification Guidelines Version 1.2 | LDLR |
Showing 1 to 1 of 1 rows