ClinVar Miner

Submissions for variant NM_001330260.2(SCN8A):c.5601G>A (p.Gln1867=) (rs368449473)

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 RCV000189257 SCV000242889 benign not specified 2014-10-14 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.
Invitae RCV001083743 SCV000757999 benign Early infantile epileptic encephalopathy with suppression bursts 2020-11-23 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000713158 SCV000843737 benign not provided 2018-03-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV000718311 SCV000849173 likely benign History of neurodevelopmental disorder 2017-02-08 criteria provided, single submitter clinical testing In silico models in agreement (benign);Synonymous alterations with insufficient evidence to classify as benign
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000189257 SCV000860088 likely benign not specified 2018-03-12 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.