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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_000540.3(RYR1):c.14582G>A (p.Arg4861His) | Pathogenic | RYR1-related myopathy | 2025-01-03 | 1.1 | ClinGen Congenital Myopathies Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for RYR1 Version 2.0.0 | RYR1 |
| View | NM_000540.3(RYR1):c.14582G>A (p.Arg4861His) | Pathogenic | 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 2 of 2 rows