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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_001323289.2(CDKL5):c.2500C>T (p.Gln834Ter) | Pathogenic | CDKL5 disorder | 2024-12-04 | 1.0 | ClinGen Rett and Angelman-like Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for CDKL5 Version 3.0.0 | CDKL5 |
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