Submissions for variant NM_172107.4(KCNQ2):c.*4G>A

gnomAD frequency: 0.00207  dbSNP: rs1801508

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000186634	SCV000169984	benign	not specified	2013-07-31	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)	RCV000186634	SCV000202882	benign	not specified	2016-01-07	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002312994	SCV000848105	likely benign	Inborn genetic diseases	2016-10-25	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.
CeGaT Center for Human Genetics Tuebingen	RCV002262756	SCV002544647	likely benign	not provided	2024-11-01	criteria provided, single submitter	clinical testing	KCNQ2: BS1
PreventionGenetics, part of Exact Sciences	RCV004532725	SCV004724511	likely benign	KCNQ2-related disorder	2019-07-29	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).