ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.10323G>T (p.Gly3441=)

gnomAD frequency: 0.00011  dbSNP: rs373354231
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) RCV000724619 SCV000230822 uncertain significance not provided 2015-03-13 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Mass General Brigham Personalized Medicine RCV000222142 SCV000270222 likely benign not specified 2016-04-08 criteria provided, single submitter clinical testing p.Gly3441Gly in exon 49 of GPR98: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wit hin the splice consensus sequence, and has been identified in 4/66680 European c hromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute .org; dbSNP rs373354231).
Invitae RCV000724619 SCV002392469 likely benign not provided 2021-09-24 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.