ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.2085C>T (p.Gly695=)

gnomAD frequency: 0.00043  dbSNP: rs150568382
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000949208 SCV000715610 likely benign not provided 2021-09-28 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 12955714)
Labcorp Genetics (formerly Invitae), Labcorp RCV000949208 SCV001095456 benign not provided 2024-10-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002491248 SCV002795648 likely benign Cataract 41; Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6; Type 2 diabetes mellitus; Wolfram-like syndrome 2022-01-06 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV003128193 SCV003804222 likely benign Wolfram syndrome 1 criteria provided, single submitter research Potent mutations in WFS1 gene are associated with Wolfram's syndrome, an autosomal recessive condition, which cause diabetes mellitus, diabetes insipidus, deafness and optic atrophy. However no sufficient evidence is found to ascertain the role of this particular variant rs150568382 in Wolfram's syndrome yet.
PreventionGenetics, part of Exact Sciences RCV004530750 SCV004735649 likely benign WFS1-related disorder 2023-10-25 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.