ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.3885T>G (p.Gly1295=)

gnomAD frequency: 0.00006  dbSNP: rs530678993
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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 RCV000825098 SCV000966352 likely benign not specified 2018-02-28 criteria provided, single submitter clinical testing p.Gly1295Gly in exon 20 of ADGRV1 (previously called GPR98): This variant is cla ssified as likely benign because it does not alter an amino acid residue, is not located within the splice consensus sequence, and is not predicted to impact sp licing. It has been identified in 0.02% (2/9784) of African chromosomes by the E xome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs53067 8993). ACMG/AMP Criteria applied: BP4, BP7.
Invitae RCV001501421 SCV001706232 likely benign not provided 2023-12-13 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.