ClinVar Miner

Submissions for variant NM_018480.5(TMEM126B):c.635G>T (p.Gly212Val) (rs141542003)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000239528 SCV000930284 uncertain significance Mitochondrial complex 1 deficiency, nuclear type 29 2019-04-27 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000239528 SCV001369031 likely pathogenic Mitochondrial complex 1 deficiency, nuclear type 29 2019-06-26 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PS1,PP1,PP3.
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital RCV001269887 SCV001450221 likely pathogenic not provided 2018-09-11 criteria provided, single submitter clinical testing
Wellcome Centre for Mitochondrial Research,Newcastle University RCV000240617 SCV000280579 pathogenic Mitochondrial diseases 2016-05-18 no assertion criteria provided clinical testing
OMIM RCV000239528 SCV000297964 pathogenic Mitochondrial complex 1 deficiency, nuclear type 29 2018-12-13 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.