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: CA295170 159933
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_001042537.1(SLC9A6):c.25G>T (p.Ala9Ser) | Benign | Christianson syndrome | 2021-05-17 | 1.0 | - | SLC9A6 |
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