ClinVar Miner

Submissions for variant m.8356T>C (rs118192099)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV000850957 SCV000993191 pathogenic Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 2019-07-12 criteria provided, single submitter clinical testing The NC_012920.1:m.8356T>C variant in MT-TK gene is interpreted to be a Pathogenic variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes reported in the guidelines: PS3, PS5, PM7
OMIM RCV000010195 SCV000030418 pathogenic MERRF syndrome 2010-10-01 no assertion criteria provided literature only
OMIM RCV000010196 SCV000030419 pathogenic MERRF/MELAS overlap syndrome 2010-10-01 no assertion criteria provided literature only
GeneReviews RCV000010195 SCV000207615 pathogenic MERRF syndrome 2015-01-29 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.