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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_001110792.2(MECP2):c.428C>A (p.Ala143Asp) | Pathogenic | Rett syndrome | 2024-10-25 | 1.0 | ClinGen Rett and Angelman-like Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for MECP2 Version 3.0.0 | MECP2 |
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