The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]
Criteria Specification: CSpec Registry PDF
Variant: NM_000277.2(PAH):c.581T>C (p.Leu194Pro)
Inheritance Mode: Autosomal recessive inheritance
Evidence submitted by expert panel
Approved on: 2018-08-13
Published on: 2019-04-06
The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. If you have questions about the information contained on this website, please see a health care professional.