ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.12207C>T (p.Thr4069=) (rs202066007)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000150778 SCV000198275 likely benign not specified 2016-06-20 criteria provided, single submitter clinical testing p.Thr4069Thr in exon 59 of GPR98: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wit hin the splice consensus sequence, and has been identified in 3/11412 Latino chr omosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.o rg; dbSNP rs202066007).
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000710426 SCV000337990 uncertain significance not provided 2015-12-21 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000710426 SCV000840640 likely benign not provided 2017-12-30 criteria provided, single submitter clinical testing
Invitae RCV000710426 SCV001668911 likely benign not provided 2020-11-14 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.