ClinVar Miner

Submissions for variant NM_000328.3(RPGR):c.1697G>A (p.Gly566Glu) (rs1801688)

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
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000078651 SCV000110507 benign not specified 2013-10-03 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000078651 SCV000269757 benign not specified 2015-01-13 criteria provided, single submitter clinical testing p.Gly566Glu in exon 14 of RPGR: This variant is not expected to have clinical si gnificance because it has been identified in 16.0% (614/3833) of African America n chromosomes from a broad population by the NHLBI Exome Sequencing Project (htt p://; dbSNP rs1801688).
PreventionGenetics,PreventionGenetics RCV000078651 SCV000303614 benign not specified criteria provided, single submitter clinical testing
Retina International RCV000085070 SCV000117207 not provided not provided no assertion provided not provided

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.