ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.333G>A (p.Ser111=) (rs56008253)

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
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000177322 SCV000229169 likely benign not specified 2015-05-28 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000177322 SCV000247677 likely benign not specified 2015-04-03 criteria provided, single submitter clinical testing
GeneDx RCV000177322 SCV000524198 benign not specified 2016-02-22 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 RCV000469009 SCV000563648 benign Early infantile epileptic encephalopathy 14; Epilepsy, nocturnal frontal lobe, 5 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000717634 SCV000848488 likely benign Seizures 2016-10-05 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign

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.