ClinVar Miner

Submissions for variant NM_001083961.2(WDR62):c.2887G>A (p.Val963Met)

gnomAD frequency: 0.00002  dbSNP: rs113046428
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
Eurofins Ntd Llc (ga) RCV000176463 SCV000228124 uncertain significance not provided 2018-01-16 criteria provided, single submitter clinical testing
GeneDx RCV000176463 SCV001787392 uncertain significance not provided 2020-09-28 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Mayo Clinic Laboratories, Mayo Clinic RCV000176463 SCV004224613 uncertain significance not provided 2022-10-07 criteria provided, single submitter clinical testing BP4, PM2

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.