ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.7569A>G (p.Thr2523=)

gnomAD frequency: 0.00029  dbSNP: rs373352597
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 RCV000039631 SCV000063320 likely benign not specified 2010-12-06 criteria provided, single submitter clinical testing Thr2523Thr in exon 33 of GPR98: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located ne ar a splice junction.
Eurofins Ntd Llc (ga) RCV000726325 SCV000343808 uncertain significance not provided 2018-02-10 criteria provided, single submitter clinical testing
Invitae RCV000726325 SCV001112961 likely benign not provided 2024-01-19 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.