ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.15786C>T (p.Phe5262=)

gnomAD frequency: 0.00149  dbSNP: rs369083434
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
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 RCV000039537 SCV000063226 benign not specified 2015-06-08 criteria provided, single submitter clinical testing Phe5262Phe in Exon 74 of GPR98: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, and has been identified in 0.5% (47/9728) of Af rican chromosomes, including 1 homozygote, by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs369083434).
Eurofins Ntd Llc (ga) RCV000725984 SCV000341009 uncertain significance not provided 2016-05-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000725984 SCV001725221 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000725984 SCV001818813 likely benign not provided 2019-10-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004549460 SCV004783962 likely benign ADGRV1-related disorder 2019-10-15 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.