ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.2034A>G (p.Thr678=) (rs147891446)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000716119 SCV000846954 benign History of neurodevelopmental disorder 2016-04-07 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign,Other data supporting benign classification
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000174589 SCV000225911 benign not specified 2015-01-30 criteria provided, single submitter clinical testing
GeneDx RCV000174589 SCV000171535 benign not specified 2012-11-14 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.
Genetic Services Laboratory, University of Chicago RCV000174589 SCV000248806 likely benign not specified 2015-06-25 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000305012 SCV000417416 likely benign Early Infantile Epileptic Encephalopathy, Autosomal Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000362080 SCV000417417 likely benign Benign familial neonatal-infantile seizures 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000468872 SCV000562131 benign Benign familial neonatal-infantile seizures; Early infantile epileptic encephalopathy 11 2018-01-18 criteria provided, single submitter 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.