ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.10607G>A (p.Arg3536His)

gnomAD frequency: 0.00328  dbSNP: rs144618536
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 RCV000039506 SCV000063195 benign not specified 2012-03-26 criteria provided, single submitter clinical testing Arg3536His in exon 51 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, has been identified in 0.12% (8/660) of Europea n American chromosomes and 1.1% (33/3068) of African American chromosomes in a b road population by the NHLBI Exome sequencing project (http://evs.gs.washington. edu/EVS/; rs144618536).
Invitae RCV000905369 SCV001049948 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000905369 SCV001960185 benign not provided 2018-09-27 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.