ClinVar Miner

Submissions for variant NC_012920.1(MT-TL1):m.3250T>C

dbSNP: rs199474664
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
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV000850690 SCV000992922 uncertain significance MELAS syndrome 2019-07-12 criteria provided, single submitter clinical testing The NC_012920.1:m.3250T>C variant in MT-TL1 gene is interpreted to be a Unknown Significance variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes reported in the guidelines: PM8, PP6, BS4
OMIM RCV004558244 SCV000030440 pathogenic Mitochondrial skeletal myopathy, responsive to riboflavin 1997-01-01 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.