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: CA229304 102494
VCEP: Phenylketonuria VCEP
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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_000277.3(PAH):c.1048T>A (p.Ser350Thr) | Likely Pathogenic | phenylketonuria | 2021-06-09 | 1.0 | - | PAH |
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