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: CA149410 96263
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_130839.5(UBE3A):c.373T>C (p.Leu125=) | Benign | Angelman syndrome | 2022-06-30 | 1.0 | - | UBE3A |
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