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: CA229699 102790
VCEP: Phenylketonuria VCEP
Showing 1 to 1 of 1 rows
See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_000277.2(PAH):c.699C>A (p.Phe233Leu) | Pathogenic | phenylketonuria | 2022-02-20 | 1.0 | - | PAH |
Showing 1 to 1 of 1 rows