ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.13232-7A>G

gnomAD frequency: 0.03097  dbSNP: rs2438358
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
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 RCV000039522 SCV000063211 benign not specified 2012-05-07 criteria provided, single submitter clinical testing 13232-7A>G in Intron 65 of GPR98: This variant is not expected to have clinical significance because it has been identified in 9.0% (296/3300) of African Americ an chromosomes from a broad population by the NHLBI Exome Sequencing Project (ht tp://evs.gs.washington.edu/EVS; dbSNP rs2438358).
GeneDx RCV000039522 SCV000168723 benign not specified 2013-04-04 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Preventiongenetics, part of Exact Sciences RCV000039522 SCV000314853 benign not specified criteria provided, single submitter clinical testing
Invitae RCV000956294 SCV001103055 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000956294 SCV001159176 benign not provided 2023-10-16 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000039522 SCV000193235 likely benign not specified no assertion criteria provided 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.