Showing 1 to 1 of 1 rows
See Report
Preferred Variant Title
Classification
Condition
Published Date
Version
Criteria Specification
Gene
View NM_000023.4(SGCA):c.574C>T (p.Arg192Ter)
Pathogenic
autosomal recessive limb-girdle muscular dystrophy2025-01-07
1.0
ClinGen Limb Girdle Muscular Dystrophy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for SGCA Version 1.0.0SGCA
Showing 1 to 1 of 1 rows