ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.331del (p.Ile111fs)

dbSNP: rs1562434099
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
CeGaT Center for Human Genetics Tuebingen RCV000762411 SCV000892725 likely pathogenic not provided 2018-04-01 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory, Institute for Ophthalmic Research RCV001199521 SCV001162617 pathogenic Isolated macular dystrophy 2020-01-09 criteria provided, single submitter research
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004817980 SCV005069851 pathogenic Retinal dystrophy 2019-01-01 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.