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See Report
Preferred Variant Title
Classification
Condition
Published Date
Version
Criteria Specification
Gene
View NM_000540.3(RYR1):c.4729G>A (p.Ala1577Thr)
Uncertain Significance
RYR1-related myopathy2025-01-03
1.0
ClinGen Congenital Myopathies Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for RYR1 Version 2.0.0RYR1
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