Submissions for variant NM_020822.3(KCNT1):c.3502+16G>A

gnomAD frequency: 0.01447  dbSNP: rs112116686

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000242004	SCV000313674	benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV000242004	SCV000522813	benign	not specified	2016-01-12	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.
Eurofins Ntd Llc (ga)	RCV000242004	SCV000703410	benign	not specified	2016-11-03	criteria provided, single submitter	clinical testing
Invitae	RCV001511163	SCV001718360	benign	Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5	2024-01-30	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002270148	SCV002553702	benign	Developmental and epileptic encephalopathy, 14	2022-03-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002270149	SCV002553704	benign	Autosomal dominant nocturnal frontal lobe epilepsy 5	2022-03-15	criteria provided, single submitter	clinical testing