ClinVar Miner

Submissions for variant NM_000329.3(RPE65):c.644-33C>G

gnomAD frequency: 0.54169  dbSNP: rs1925955
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000251467 SCV000303626 benign not specified criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001533577 SCV001750241 benign Leber congenital amaurosis 2 2021-07-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001533578 SCV001750242 benign Retinitis pigmentosa 87 with choroidal involvement 2021-07-01 criteria provided, single submitter clinical testing
GeneDx RCV001610572 SCV001835529 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001795394 SCV002033736 benign Retinitis pigmentosa 20 2021-11-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001610572 SCV005287904 benign not provided criteria provided, single submitter 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.