Showing 1 to 1 of 1 rows
See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_000070.3(CAPN3):c.1468C>T (p.Arg490Trp) | Pathogenic | autosomal recessive limb-girdle muscular dystrophy | 2025-01-09 | 1.0 | ClinGen Limb Girdle Muscular Dystrophy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for CAPN3 Version 1.0.0 | CAPN3 |
Showing 1 to 1 of 1 rows