ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.1152C>G (p.Pro384=) (rs281865458)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000929022 SCV001074645 likely benign not provided 2018-09-13 criteria provided, single submitter clinical testing
Inserm U 954, Faculté de Médecine de Nancy RCV000106340 SCV000143839 probable-non-pathogenic Phenylketonuria no assertion criteria provided not provided Converted during submission to Likely benign.

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. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.