ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.5568G>A (p.Met1856Ile) (rs144691638)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000726913 SCV000242640 benign not provided 2020-12-07 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000726913 SCV000704133 uncertain significance not provided 2016-12-28 criteria provided, single submitter clinical testing
Invitae RCV001079061 SCV000758013 likely benign Early infantile epileptic encephalopathy with suppression bursts 2020-11-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716662 SCV000847504 likely benign History of neurodevelopmental disorder 2018-09-10 criteria provided, single submitter clinical testing In silico models in agreement (benign);Other strong data supporting benign classification

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.