Showing 1 to 1 of 1 rows
See Report
Preferred Variant Title
Classification
Condition
Published Date
Version
Criteria Specification
Gene
View NM_001005361.3(DNM2):c.2484G>A (p.Pro828=)
Benign
centronuclear myopathy2024-10-01
1.0
ClinGen Congenital Myopathies Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for DNM2 Version 1.0.0DNM2
Showing 1 to 1 of 1 rows