ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.21A>C (p.Pro7=)

gnomAD frequency: 0.00002  dbSNP: rs727504831
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 RCV000156171 SCV000205887 likely benign not specified 2013-11-22 criteria provided, single submitter clinical testing Pro7Pro (c.21A>C) in Exon 1 of GPR98: This variant is not expected to have clini cal significance because it does not alter an amino acid residue and, although i t is located in the second to last base in the exon near the 5' splice site, com putational tools do not predict an impact to splicing.
Invitae RCV001240093 SCV001413016 uncertain significance not provided 2021-09-30 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.