The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries.
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Curation History
Variant: CA229408 102573
VCEP: Phenylketonuria VCEP
Showing 1 to 4 of 4 rows
See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
---|---|---|---|---|---|---|---|
View | NM_000277.3(PAH):c.122T>C (p.Leu41Pro) | 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.122T>C (p.Leu41Pro) | Uncertain Significance | phenylketonuria | 2024-09-06 | 1.2 | - | PAH |
View | NM_000277.3(PAH):c.122T>C (p.Leu41Pro) | Uncertain Significance | phenylketonuria | 2024-09-06 | 1.1 | - | PAH |
View | NM_000277.3(PAH):c.122T>C (p.Leu41Pro) | Uncertain Significance | phenylketonuria | 2019-12-22 | 1.0 | - | PAH |
Showing 1 to 4 of 4 rows