ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.1806G>A (p.Ala602=)

dbSNP: rs142295878
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000865092 SCV000534952 likely benign not provided 2020-02-10 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 20028947)
Labcorp Genetics (formerly Invitae), Labcorp RCV000865092 SCV001005998 likely benign not provided 2024-10-23 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002488971 SCV002794684 likely benign Cataract 41; Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6; Type 2 diabetes mellitus; Wolfram-like syndrome 2021-10-27 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV003126735 SCV003802905 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 rs142295878 in Wolfram's syndrome yet.

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.