ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.1395C>T (p.Ala465=)

gnomAD frequency: 0.00012  dbSNP: rs71530905
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
Laboratory for Molecular Medicine,Mass General Brigham Personalized Medicine RCV000219568 SCV000269955 benign not specified 2015-02-25 criteria provided, single submitter clinical testing p.Ala465Ala in exon 8 of WFS1: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in 0.3% (46/16504) of So uth Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.bro; dbSNP rs71530905).
GeneDx RCV000878576 SCV000515271 likely benign not provided 2019-06-19 criteria provided, single submitter clinical testing
Invitae RCV000878576 SCV001021501 benign not provided 2021-12-13 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.