ClinVar Miner

Submissions for variant NM_020366.3(RPGRIP1):c.2440C>T (p.Arg814Ter) (rs759940113)

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
Center of Genomic medicine, Geneva,University Hospital of Geneva RCV000710047 SCV000840425 pathogenic Leber congenital amaurosis 2018-04-13 criteria provided, single submitter clinical testing This variant was identified in combination with another variant in the same gene (compound heterozygosity) in patient with Leber congenital amaurosis.
Molecular Genetics Laboratory,Institute for Ophthalmic Research RCV000754600 SCV000845194 pathogenic Leber congenital amaurosis 6 2018-08-21 criteria provided, single submitter research
Fulgent Genetics,Fulgent Genetics RCV000762921 SCV000893339 pathogenic Cone-rod dystrophy 13; Leber congenital amaurosis 6 2018-10-31 criteria provided, single submitter clinical testing

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.