ClinVar Miner

Submissions for variant NM_025136.3(OPA3):c.-47_-40delGCCCCGCC (rs886054542)

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
Counsyl RCV000368220 SCV000794366 uncertain significance 3-Methylglutaconic aciduria type 3 2017-10-06 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000311242 SCV000413898 uncertain significance Optic Atrophy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000368220 SCV000413899 uncertain significance 3-Methylglutaconic aciduria type 3 2016-06-14 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.