Submissions for variant NM_020822.3(KCNT1):c.3157-8C>T

gnomAD frequency: 0.00088  dbSNP: rs371874401

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000193361	SCV000247676	benign	not specified	2016-01-07	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000193361	SCV000338529	likely benign	not specified	2016-01-14	criteria provided, single submitter	clinical testing
GeneDx	RCV001721254	SCV000525487	likely benign	not provided	2020-12-02	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000463033	SCV000563653	benign	Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5	2024-01-29	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002269969	SCV002553631	likely benign	Developmental and epileptic encephalopathy, 14	2022-03-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002269970	SCV002553632	likely benign	Autosomal dominant nocturnal frontal lobe epilepsy 5	2022-03-15	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004725047	SCV005338805	likely benign	KCNT1-related disorder	2024-07-25	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).