ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.*484del

dbSNP: rs55851577
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000340054 SCV000463156 likely benign Vitelliform macular dystrophy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000405659 SCV000463157 likely benign Retinitis Pigmentosa, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000304936 SCV000463158 likely benign Cone-Rod Dystrophy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000361982 SCV000463159 likely benign Choroidal Dystrophy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000269280 SCV000463160 likely benign Pigmentary retinal dystrophy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000308019 SCV000463161 likely benign Patterned macular dystrophy 1 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001692032 SCV001908854 benign not provided 2021-05-14 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.