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

Total submissions: 8

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	RCV000471444	SCV000524869	likely benign	not provided	2021-04-27	criteria provided, single submitter	clinical testing
Invitae	RCV001080555	SCV000563634	likely benign	Early infantile epileptic encephalopathy 14; Epilepsy, nocturnal frontal lobe, 5	2020-12-08	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000715496	SCV000846325	likely benign	Seizures	2017-06-29	criteria provided, single submitter	clinical testing	In silico models in agreement (benign);Insufficient or conflicting evidence;Subpopulation frequency in support of benign classification
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).
Athena Diagnostics Inc	RCV000471444	SCV001144346	benign	not provided	2019-06-17	criteria provided, single submitter	clinical testing
Bioinformatics Core,Luxembourg Center for Systems Biomedicine	RCV000656028	SCV000588304	pathogenic	Rolandic epilepsy	2017-01-01	no assertion criteria provided	case-control	CAADphred>15