Showing 1 to 1 of 1 rows
See Report
Preferred Variant Title
Classification
Condition
Published Date
Version
Criteria Specification
Gene
View NM_000232.5(SGCB):c.92G>T (p.Ser31Ile)
Benign
autosomal recessive limb-girdle muscular dystrophy2025-01-09
1.0
ClinGen Limb Girdle Muscular Dystrophy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for SGCB Version 1.0.0SGCB
Showing 1 to 1 of 1 rows