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: CA10360734 434667
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_000330.4(RS1):c.185-3137C>A | Likely Benign | CDKL5 disorder | 2023-06-02 | 2.1 | - | CDKL5 |
| View | NM_000330.4(RS1):c.185-3137C>A | Likely Benign | CDKL5 disorder | 2023-06-02 | 2.0 | - | RS1 |
| View | NM_000330.4(RS1):c.185-3137C>A | Likely Benign | CDKL5 disorder | 2023-03-31 | 1.0 | - | RS1 |
Showing 1 to 3 of 3 rows