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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_001005361.3(DNM2):c.1856C>T (p.Ser619Leu) | Pathogenic | 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 |
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