ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.10293C>T (p.Asn3431=)

gnomAD frequency: 0.00011  dbSNP: rs763452527
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 RCV000825101 SCV000966355 likely benign not specified 2017-08-23 criteria provided, single submitter clinical testing p.Asn3431Asn in exon 49 of GPR98: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 1/9798 African c hromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute .org; dbSNP rs763452527).
Invitae RCV001488599 SCV001693122 likely benign not provided 2023-12-24 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.