Showing 1 to 1 of 1 rows
See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
---|---|---|---|---|---|---|---|
View | NM_000540.3(RYR1):c.1077T>C (p.Ala359=) | Benign | RYR1-related myopathy | 2024-10-02 | 1.0 | ClinGen Congenital Myopathies Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for RYR1 Version 1.0.0 | RYR1 |
Showing 1 to 1 of 1 rows