ClinVar Miner

Submissions for variant NM_001277062.2(MFF):c.112C>T (p.Gln38Ter) (rs397514615)

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 RCV000033052 SCV000056832 pathogenic Encephalopathy due to defective mitochondrial and peroxisomal fission 2 2012-04-01 no assertion criteria provided literature only
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre RCV000162157 SCV000196443 likely pathogenic Mitochondrial encephalomyopathy; Global developmental delay 2014-12-01 no assertion criteria provided research

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.