The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries.
[Disclaimer]
Curation History
Variant: CA273110 92746
VCEP: Phenylketonuria VCEP
Showing 1 to 2 of 2 rows
See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_000277.2(PAH):c.533A>G (p.Glu178Gly) | Pathogenic | phenylketonuria | 2025-04-18 | 1.1 | ClinGen Phenylketonuria Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for PAH Version 2.0.0 | PAH |
| View | NM_000277.2(PAH):c.533A>G (p.Glu178Gly) | Pathogenic | phenylketonuria | 2019-04-06 | 1.0 | - | PAH |
Showing 1 to 2 of 2 rows