ClinVar Miner

Submissions for variant NM_001354768.3(NRL):c.339C>G (p.Tyr113Ter)

dbSNP: rs1566560531
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
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University RCV000761516 SCV000891647 likely pathogenic Retinitis pigmentosa 27 2017-12-30 criteria provided, single submitter curation
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital RCV002508787 SCV002818198 pathogenic not provided 2022-12-17 criteria provided, single submitter clinical testing
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital RCV000761516 SCV001984362 pathogenic Retinitis pigmentosa 27 2020-09-09 flagged submission 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.