Submissions for variant NM_020822.3(KCNT1):c.3641G>A (p.Arg1214Gln) (rs138282349)

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Total submissions: 7

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000193382	SCV000247679	uncertain significance	not specified	2015-05-26	criteria provided, single submitter	clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics	RCV000193382	SCV000334784	likely benign	not specified	2015-10-16	criteria provided, single submitter	clinical testing
GeneDx	RCV000193382	SCV000524869	likely benign	not specified	2018-02-05	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	RCV000471444	SCV000563634	likely benign	not provided	2019-02-08	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000715496	SCV000846325	likely benign	Seizures	2017-06-29	criteria provided, single submitter	clinical testing	Lines of evidence used in support of classification: Insufficient or conflicting evidence,Subpopulation frequency in support of benign classification,In silico models in agreement (benign)
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital	RCV000193382	SCV000864308	likely benign	not specified	2017-04-28	criteria provided, single submitter	clinical testing	BS1,BP4,BP6; This alteration has an allele frequency that is greater than expected for the associated disease, is predicted to be tolerated by multiple functional prediction tools, and was reported as a benign/likely benign alteration by a reputable source (ClinVar or other correspondence from a clinical testing laboratory).
Bioinformatics Core,Luxembourg Center for Systems Biomedicine	RCV000656028	SCV000588304	pathogenic	Rolandic epilepsy	2017-01-01	no assertion criteria provided	case-control	CAADphred>15

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