ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.13336G>A (p.Gly4446Arg) (rs542716344)

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, Partners HealthCare Personalized Medicine RCV000156241 SCV000205957 likely benign not specified 2016-03-22 criteria provided, single submitter clinical testing p.Gly4446Arg in exon 66 of GPR98: This variant is not expected to have clinical significance because it has been identified in 0.3% (51/16508) of South Asian c hromosomes including one homozygote by the Exome Aggregation Consortium (ExAC, h ttp://exac.broadinstitute.org; dbSNP rs542716344).
Blueprint Genetics RCV001073807 SCV001239369 uncertain significance Retinal dystrophy 2018-04-18 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.