ClinVar Miner

Submissions for variant NM_000329.3(RPE65):c.1301C>T (p.Ala434Val) (rs34627040)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000539372 SCV000788920 benign Leber congenital amaurosis 2; Retinitis pigmentosa 20 2017-03-06 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000327489 SCV000342673 benign not specified 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000327489 SCV000514412 benign not specified 2016-12-30 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000539372 SCV000644179 benign Leber congenital amaurosis 2; Retinitis pigmentosa 20 2017-04-18 criteria provided, single submitter clinical testing
Retina International RCV000085162 SCV000117299 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.