Submissions for variant NM_020822.3(KCNT1):c.3503-18C>T

gnomAD frequency: 0.00068  dbSNP: rs373901872

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000445313	SCV000530211	likely benign	not specified	2017-11-14	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	RCV002059826	SCV002477565	benign	Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5	2024-01-31	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002270391	SCV002553709	benign	Developmental and epileptic encephalopathy, 14	2022-03-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002270392	SCV002553710	benign	Autosomal dominant nocturnal frontal lobe epilepsy 5	2022-03-15	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002059826	SCV002794885	likely benign	Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5	2021-08-06	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001528288	SCV001739782	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001528288	SCV001926399	likely benign	not provided		no assertion criteria provided	clinical testing