ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.2370G>C (p.Ser790=)

dbSNP: rs150936382
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
Eurofins Ntd Llc (ga) RCV000726324 SCV000343803 uncertain significance not provided 2016-08-03 criteria provided, single submitter clinical testing
GeneDx RCV000726324 SCV000515365 likely benign not provided 2019-08-05 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000292988 SCV000713451 likely benign not specified 2017-07-25 criteria provided, single submitter clinical testing p.Ser790Ser in exon 8 of WFS1: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and it is not located within the splice consensus sequence. It has been identified in 1/8714 African chromosomes and 1/14982 European chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs150936382).
Labcorp Genetics (formerly Invitae), Labcorp RCV000726324 SCV003490504 likely benign not provided 2024-03-28 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.