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

Total submissions: 8

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	2020-12-04	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
CeGaT Praxis fuer Humangenetik Tuebingen	RCV001530002	SCV001748318	likely benign	not provided	2021-05-01	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001530002	SCV001744464	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001530002	SCV001930023	likely benign	not provided		no assertion criteria provided	clinical testing