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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_213599.3(ANO5):c.2503_2505del (p.Phe835del) | Likely Pathogenic | autosomal recessive limb-girdle muscular dystrophy | 2025-01-07 | 1.0 | ClinGen Limb Girdle Muscular Dystrophy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for ANO5 Version 1.0.0 | ANO5 |
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