Showing 1 to 4 of 4 rows
See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_000277.1(PAH):c.1039C>T (p.Leu347Phe) | Likely Pathogenic | phenylketonuria | 2024-11-18 | 2.0 | 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.1039C>T (p.Leu347Phe) | Uncertain Significance | phenylketonuria | 2024-11-18 | 1.2 | - | PAH |
| View | NM_000277.1(PAH):c.1039C>T (p.Leu347Phe) | Uncertain Significance | phenylketonuria | 2024-11-18 | 1.1 | - | PAH |
| View | NM_000277.1(PAH):c.1039C>T (p.Leu347Phe) | Uncertain Significance | phenylketonuria | 2021-07-09 | 1.0 | - | PAH |
Showing 1 to 4 of 4 rows