ClinVar Miner

Submissions for variant NM_001034853.2(RPGR):c.2118_2190dup (p.Gly731fs)

dbSNP: rs2067190364
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001074589 SCV001240180 likely pathogenic Retinal dystrophy 2019-01-08 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001251577 SCV001427274 likely pathogenic Retinitis pigmentosa 3 no assertion criteria provided 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.