Submissions for variant NM_020822.3(KCNT1):c.3360G>A (p.Ala1120=)

gnomAD frequency: 0.00001  dbSNP: rs768977873

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000840917	SCV000982863	likely benign	not provided	2018-03-21	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV002068574	SCV002447241	likely benign	Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5	2024-10-23	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002271068	SCV002553677	likely benign	Developmental and epileptic encephalopathy, 14	2022-03-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002271069	SCV002553678	likely benign	Autosomal dominant nocturnal frontal lobe epilepsy 5	2022-03-15	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000840917	SCV004158996	likely benign	not provided	2022-10-01	criteria provided, single submitter	clinical testing	KCNT1: BP4, BP7