Submissions for variant NM_020822.3(KCNT1):c.2543A>G (p.Glu848Gly)

gnomAD frequency: 0.00233  dbSNP: rs149804567

Total submissions: 15

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000176324	SCV000151547	likely benign	not specified	2014-12-15	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000176324	SCV000227958	likely benign	not specified	2015-02-20	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000176324	SCV000313667	likely benign	not specified		criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000427452	SCV000511254	likely benign	not provided	2016-11-07	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
GeneDx	RCV000427452	SCV000523049	likely benign	not provided	2022-06-27	criteria provided, single submitter	clinical testing	See Variant Classification Assertion Criteria.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001084423	SCV000563636	likely benign	Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5	2024-01-29	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002312161	SCV000846364	likely benign	Inborn genetic diseases	2019-02-20	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Mendelics	RCV000988291	SCV001137957	likely benign	Developmental and epileptic encephalopathy, 14	2019-05-28	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000427452	SCV001144342	benign	not provided	2019-05-15	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000427452	SCV002546125	likely benign	not provided	2024-08-01	criteria provided, single submitter	clinical testing	KCNT1: BS1
Genome-Nilou Lab	RCV000988291	SCV002555499	benign	Developmental and epileptic encephalopathy, 14	2022-03-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002269830	SCV002555500	benign	Autosomal dominant nocturnal frontal lobe epilepsy 5	2022-03-15	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000427452	SCV005228597	likely benign	not provided		criteria provided, single submitter	not provided
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000427452	SCV001930537	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000176324	SCV001954776	benign	not specified		no assertion criteria provided	clinical testing