Showing 1 to 1 of 1 rows
See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_000277.3(PAH):c.664_665del (p.Glu221_Asp222insTer) | Pathogenic | phenylketonuria | 2023-12-30 | 1.0 | ClinGen PAH Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1 | PAH |
Showing 1 to 1 of 1 rows