ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.906+2T>G

dbSNP: rs1594180201
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
CeGaT Center for Human Genetics Tuebingen RCV000995112 SCV001149115 uncertain significance not provided 2018-10-01 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory, Institute for Ophthalmic Research RCV001199771 SCV001162687 pathogenic Cone-rod dystrophy 2020-01-09 criteria provided, single submitter research
Genome-Nilou Lab RCV001800909 SCV002045767 likely pathogenic Leber congenital amaurosis 6 2021-11-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001800910 SCV002045778 likely pathogenic Cone-rod dystrophy 13 2021-11-07 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.