ClinVar Miner

Submissions for variant NM_016464.5(TMEM138):c.389A>G (p.Tyr130Cys) (rs387907135)

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
Department of Genetics,Sultan Qaboos University Hospital, Oman RCV000024190 SCV000891560 uncertain significance Joubert syndrome 16 2017-12-30 criteria provided, single submitter curation
OMIM RCV000024190 SCV000045481 pathogenic Joubert syndrome 16 2012-02-24 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.