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 myopathy | 2024-10-01 | 1.0 | ClinGen Congenital Myopathies Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for DNM2 Version 1.0.0 | DNM2 |
Showing 1 to 1 of 1 rows