ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.1385A>G (p.Glu462Gly)

dbSNP: rs398123066
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
CeGaT Center for Human Genetics Tuebingen RCV004597741 SCV005092624 likely pathogenic not provided 2024-07-01 criteria provided, single submitter clinical testing WFS1: PP1:Strong, PM2, PS4:Supporting
OMIM RCV000077875 SCV000109704 pathogenic Cataract 41 2013-12-01 no assertion criteria provided literature only

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.