ClinVar Miner

Submissions for variant NM_005726.6(TSFM):c.57+4A>G

dbSNP: rs587777689
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
OMIM RCV000143785 SCV000188680 pathogenic Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 2014-08-19 no assertion criteria provided literature only
Mayo Clinic Laboratories, Mayo Clinic RCV000676305 SCV000802062 uncertain significance not provided 2017-08-22 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.