ClinVar Miner

Submissions for variant NM_006516.3(SLC2A1):c.679+4C>T (rs139492241)

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
GeneDx RCV000186662 SCV000171698 benign not specified 2013-07-24 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000723793 SCV000203590 uncertain significance not provided 2015-01-26 criteria provided, single submitter clinical testing
Invitae RCV001087312 SCV000649808 likely benign GLUT1 deficiency syndrome 1, autosomal recessive 2020-11-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV000717984 SCV000848845 benign History of neurodevelopmental disorder 2019-03-21 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000723793 SCV001930092 likely benign not provided no assertion criteria provided clinical testing

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.