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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_000277.2(PAH):c.199T>C (p.Ser67Pro) | Pathogenic | phenylketonuria | 2023-03-16 | 1.0 | ClinGen PAH Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1 | PAH |
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