The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries.
[Disclaimer]
Curation History
Variant: CA172185 137390
VCEP: Rett and Angelman-like Disorders VCEP
Showing 1 to 1 of 1 rows
See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_005249.5(FOXG1):c.489C>T (p.Gly163=) | Benign | FOXG1 disorder | 2021-05-17 | 1.0 | - | FOXG1 |
Showing 1 to 1 of 1 rows