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: CA267677 120288
VCEP: Phenylketonuria VCEP
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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_000277.2(PAH):c.837delC (p.Glu280Asnfs) | Pathogenic | phenylketonuria | 2019-07-14 | 1.0 | - | PAH |
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