Showing 1 to 2 of 2 rows
See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_000277.3(PAH):c.1066-11G>A | Pathogenic | phenylketonuria | 2024-12-31 | 1.1 | ClinGen Phenylketonuria Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for PAH Version 2.0.0 | PAH |
| View | NM_000277.1(PAH):c.1066-11G>A | Pathogenic | phenylketonuria | 2019-04-05 | 1.0 | - | PAH |
Showing 1 to 2 of 2 rows