ClinVar Miner

Submissions for variant NM_000255.4(MMUT):c.1849CTT[1] (p.Leu618del)

dbSNP: rs398123277
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
Eurofins Ntd Llc (ga) RCV000078442 SCV000110295 uncertain significance not provided 2013-01-21 criteria provided, single submitter clinical testing
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital RCV000210829 SCV000267124 pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 2012-06-15 no assertion criteria provided research

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.