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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_000277.2(PAH):c.1301C>A (p.Ala434Asp) | Pathogenic | phenylketonuria | 2023-12-30 | 1.0 | ClinGen PAH Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1 | PAH |
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