ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.1179C>T (p.Ala393=)

gnomAD frequency: 0.00001  dbSNP: rs746433560
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
Labcorp Genetics (formerly Invitae), Labcorp RCV002112258 SCV002382840 likely benign not provided 2024-09-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002507962 SCV002807745 likely benign Cataract 41; Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6; Type 2 diabetes mellitus; Wolfram-like syndrome 2021-12-14 criteria provided, single submitter clinical testing

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.