ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.6242C>G (p.Ser2081Cys)

gnomAD frequency: 0.00026  dbSNP: rs201210744
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 RCV000039605 SCV000063294 likely benign not specified 2013-01-29 criteria provided, single submitter clinical testing Ser2081Cys in exon 28 of GPR98: This variant is not expected to have clinical si gnificance because serine (Ser) at position 2081 is not conserved in mammals or evolutionarily distant species and the change to cysteine (Cys) is present in ka ngaroo rat. In addition, this variant has been identified in 0.13%% (5/3702) of African American chromosomes from a broad population by the NHLBI Exome Sequenci ng Project (http://evs.gs.washington.edu/EVS/; dbSNP rs201210744) .
Invitae RCV001366393 SCV001562694 benign not provided 2024-01-03 criteria provided, single submitter clinical testing
GeneDx RCV001366393 SCV002107352 likely benign not provided 2021-09-18 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.