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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_001354304.2:c.441+5G>A | 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_001354304.2:c.441+5G>A | Uncertain Significance | phenylketonuria | 2020-09-12 | 1.0 | - | PAH |
Showing 1 to 2 of 2 rows