ClinVar Miner

Submissions for variant NM_139242.4(MTFMT):c.146_153del (p.Arg49fs)

dbSNP: rs587777417
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 Center for Human Genetics Tuebingen RCV000513541 SCV000608723 likely pathogenic not provided 2017-05-01 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000513541 SCV005414286 pathogenic not provided 2024-03-19 criteria provided, single submitter clinical testing PP1, PM2, PM3_supporting, PVS1
OMIM RCV000119835 SCV000154761 pathogenic Combined oxidative phosphorylation defect type 15 2014-03-01 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.