The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries.
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Curation History
Variant: CA147633 94112
VCEP: Rett and Angelman-like Disorders VCEP
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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_003159.2(CDKL5):c.3084G>A (p.Thr1028=) | Benign | CDKL5 disorder | 2022-09-06 | 1.0 | - | CDKL5 |
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