ClinVar Miner

Submissions for variant NM_001004334.3(GPR179):c.2022C>T (p.Asp674=) (rs79623844)

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
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000625279 SCV000744572 benign Congenital stationary night blindness, type 1E 2017-10-12 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000280482 SCV000402508 uncertain significance Congenital Stationary Night Blindness, Recessive 2016-06-14 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.