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: CA211250 11809
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_001110792.2(MECP2):c.433C>T (p.Arg145Cys) | Pathogenic | Rett syndrome | 2022-07-25 | 2.0 | - | MECP2 |
| View | NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys) | Uncertain Significance | Rett syndrome | 2022-06-28 | 1.0 | - | MECP2 |
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