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: CA16020734 555212
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_000277.3(PAH):c.169-2A>G | Pathogenic | phenylketonuria | 2024-09-20 | 1.1 | - | PAH |
View | NM_000277.3(PAH):c.169-2A>G | Pathogenic | phenylketonuria | 2024-09-20 | 1.0 | - | PAH |
Showing 1 to 2 of 2 rows