ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.4349A>G (p.Lys1450Arg)

gnomAD frequency: 0.00006  dbSNP: rs372188446
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 RCV000039584 SCV000063273 likely benign not specified 2011-01-07 criteria provided, single submitter clinical testing Lys1450Arg in exon 20 of GPR98: This variant is not expected to have clinical si gnificance because this residue is not highly conserved across species. Of note, rabbit has an arginine at this position.
Invitae RCV001323987 SCV001514926 likely benign not provided 2024-01-24 criteria provided, single submitter clinical testing
GeneDx RCV001323987 SCV001755980 likely benign not provided 2020-10-21 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 26667666)

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.