Submissions for variant NM_172107.4(KCNQ2):c.1719C>T (p.Ala573=)

gnomAD frequency: 0.00329  dbSNP: rs61737409

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000117342	SCV000151524	benign	not specified	2013-03-27	criteria provided, single submitter	clinical testing
GeneDx	RCV000117342	SCV000169972	benign	not specified	2013-01-14	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.
Eurofins Ntd Llc (ga)	RCV000117342	SCV000202885	benign	not specified	2014-04-04	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000227658	SCV000291570	benign	Early infantile epileptic encephalopathy with suppression bursts	2025-02-03	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000117342	SCV000316427	benign	not specified		criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002312147	SCV000846608	benign	Inborn genetic diseases	2016-05-15	criteria provided, single submitter	clinical testing	This alteration is classified as 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.