Showing 1 to 1 of 1 rows
See Report
Preferred Variant Title
Classification
Condition
Published Date
Version
Criteria Specification
Gene
View NM_000252.3(MTM1):c.1702A>G (p.Ile568Val)
Benign
centronuclear myopathy2024-10-01
1.0
ClinGen Congenital Myopathies Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for MTM1 Version 1.0.0MTM1
Showing 1 to 1 of 1 rows