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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 myopathy2024-10-02
1.0
ClinGen Congenital Myopathies Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for RYR1 Version 1.0.0RYR1
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