ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.904G>T (p.Glu302Ter)

dbSNP: rs61748430
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
Molecular Genetics Laboratory, Institute for Ophthalmic Research RCV001199527 SCV001162623 pathogenic Vitelliform macular dystrophy 2 2020-01-09 criteria provided, single submitter research
Institute of Human Genetics, University of Leipzig Medical Center RCV001253500 SCV001429236 likely pathogenic Adult-onset foveomacular vitelliform dystrophy 2020-01-08 criteria provided, single submitter clinical testing
Retina International RCV000085030 SCV000117166 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.