ClinVar Miner

Submissions for variant NM_000329.3(RPE65):c.48T>C (p.Phe16=) (rs62642581)

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
Illumina Clinical Services Laboratory,Illumina RCV000296314 SCV000358886 uncertain significance Retinitis Pigmentosa, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000332977 SCV000358887 uncertain significance Leber congenital amaurosis 2016-06-14 criteria provided, single submitter clinical testing
Counsyl RCV000674828 SCV000800229 likely benign Leber congenital amaurosis 2; Retinitis pigmentosa 20 2018-05-29 criteria provided, single submitter clinical testing
Retina International RCV000085201 SCV000117338 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.