ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.5953A>C (p.Asn1985His) (rs41303352)

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
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000724008 SCV000228649 uncertain significance not provided 2017-01-04 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000222295 SCV000270245 likely benign not specified 2015-07-20 criteria provided, single submitter clinical testing p.Asn1985His in exon 28 of GPR98: This variant is not expected to have clinical significance it has been identified in 0.32% (31/9680) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP r s41303352).
Invitae RCV000724008 SCV001067666 likely benign not provided 2020-11-28 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.