ClinVar Miner

Submissions for variant NM_178857.6(RP1L1):c.2878T>C (p.Trp960Arg) (rs267607018)

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 Praxis fuer Humangenetik Tuebingen RCV000998992 SCV001155369 uncertain significance not provided 2018-10-01 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001075327 SCV001240945 uncertain significance Retinal dystrophy 2018-02-20 criteria provided, single submitter clinical testing
OMIM RCV000002278 SCV000022436 pathogenic Occult macular dystrophy 2010-09-10 no assertion criteria provided literature only

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.