ClinVar Miner

Submissions for variant NM_012318.3(LETM1):c.2220G>C (p.Ter740Tyr)

dbSNP: rs2108832865
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet RCV002226782 SCV002505895 uncertain significance Global developmental delay 2021-08-01 criteria provided, single submitter clinical testing
Houlden Lab, UCL Institute of Neurology RCV002221678 SCV001981659 pathogenic LETM1-associated clinical spectrum with predominant nervous system involvement no assertion criteria provided clinical testing
OMIM RCV002294480 SCV002587007 pathogenic Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction 2022-10-25 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.