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: CA229266 102466
VCEP: Phenylketonuria VCEP
Showing 1 to 5 of 5 rows
See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_000277.3(PAH):c.1007A>G (p.Gln336Arg) | Likely Pathogenic | phenylketonuria | 2024-09-06 | 2.0 | ClinGen Phenylketonuria Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for PAH Version 2.0.0 | PAH |
| View | NM_000277.3(PAH):c.1007A>G (p.Gln336Arg) | Uncertain Significance | phenylketonuria | 2024-09-06 | 1.3 | - | PAH |
| View | NM_000277.3(PAH):c.1007A>G (p.Gln336Arg) | Uncertain Significance | phenylketonuria | 2024-09-06 | 1.2 | - | PAH |
| View | NM_000277.3(PAH):c.1007A>G (p.Gln336Arg) | Uncertain Significance | phenylketonuria | 2024-09-06 | 1.1 | - | PAH |
| View | NM_000277.3(PAH):c.1007A>G (p.Gln336Arg) | Uncertain Significance | phenylketonuria | 2021-05-14 | 1.0 | - | PAH |
Showing 1 to 5 of 5 rows