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: CA229367 102542
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.1163_1164del (p.Val388fs) | Pathogenic | phenylketonuria | 2020-10-29 | 1.0 | - | PAH |
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