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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
---|---|---|---|---|---|---|---|
View | NM_001110792.2(MECP2):c.1216_1251del (p.Glu406_Pro417del) | Likely Benign | Rett syndrome | 2024-11-29 | 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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