Submissions for variant NM_020822.3(KCNT1):c.1338-3C>T

gnomAD frequency: 0.00031  dbSNP: rs369562243

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000488177	SCV000532045	benign	not provided	2020-12-31	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000472657	SCV000553806	benign	Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5	2024-01-31	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000488177	SCV000575602	uncertain significance	not provided	2016-09-01	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000435288	SCV000613886	benign	not specified	2017-06-26	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV003343821	SCV004061341	likely benign	Inborn genetic diseases	2023-06-22	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.