ClinVar Miner

Submissions for variant NM_001368894.2(PAX6):c.400G>A (p.Val134Met)

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
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine RCV003764457 SCV004543833 uncertain significance Developmental disorder 2023-06-07 criteria provided, single submitter clinical testing
Institute of Human Genetics, University Hospital of Duesseldorf RCV004527464 SCV005038685 likely pathogenic Isolated optic nerve hypoplasia criteria provided, single submitter not provided

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.