ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.1365G>A (p.Thr455=)

gnomAD frequency: 0.00001  dbSNP: rs769749907
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002153419 SCV002452485 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500281 SCV002795599 likely benign Cataract 41; Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6; Type 2 diabetes mellitus; Wolfram-like syndrome 2021-12-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002153419 SCV004147635 likely benign not provided 2023-03-01 criteria provided, single submitter clinical testing WFS1: BP4, BP7

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.