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: CA16621203 422694
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_001379110.1(SLC9A6):c.-57+21del | Benign | Christianson syndrome | 2024-03-31 | 1.1 | ClinGen Rett and Angelman-like Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for SLC9A6 Version 3.0.0 | SLC9A6 |
| View | NM_001379110.1(SLC9A6):c.-57+21del | Benign | Christianson syndrome | 2024-03-31 | 1.0 | ClinGen Rett and Angelman-like Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for SLC9A6 Version 3.0.0 | SLC9A6 |
Showing 1 to 2 of 2 rows