ClinVar Miner

Submissions for variant NM_000329.3(RPE65):c.1302G>C (p.Ala434=) (rs62636301)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665554 SCV000789698 likely benign Leber congenital amaurosis 2; Retinitis pigmentosa 20 2017-03-06 criteria provided, single submitter clinical testing
Invitae RCV000085163 SCV001021198 benign not provided 2019-03-05 criteria provided, single submitter clinical testing
Retina International RCV000085163 SCV000117300 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.