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: CA220592 92753
VCEP: Phenylketonuria VCEP
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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_000277.1(PAH):c.926C>T (p.Ala309Val) | Pathogenic | phenylketonuria | 2019-04-05 | 1.0 | - | PAH |
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