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: CA198846 143406
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_001110792.1(MECP2):c.1200_1243del44 (p.Pro401Terfs) | Pathogenic | Rett syndrome | 2021-05-10 | 1.0 | - | MECP2 |
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