ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.2480G>T (p.Arg827Leu)

dbSNP: rs28937883
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
OMIM RCV000005274 SCV000025452 pathogenic Cone-rod dystrophy 13 2003-08-01 no assertion criteria provided literature only
GeneReviews RCV000005274 SCV000086985 not provided Cone-rod dystrophy 13 no assertion provided literature only
Retina International RCV000086245 SCV000118391 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.