ClinVar Miner

Submissions for variant NM_001127660.1(MFN2):c.827A>G (p.Gln276Arg) (rs119103264)

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
Institute of Human Genetics, University of Leipzig Medical Center RCV001253214 SCV001428822 likely pathogenic Charcot-Marie-Tooth disease, type 2A2A 2019-03-21 criteria provided, single submitter clinical testing
OMIM RCV000002366 SCV000022524 pathogenic Hereditary motor and sensory neuropathy with optic atrophy 2006-02-01 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.