Submissions for variant NM_172107.4(KCNQ2):c.570C>T (p.Asn190=)

gnomAD frequency: 0.00145  dbSNP: rs116087798

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000126450	SCV000169957	benign	not specified	2013-07-25	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	RCV000636604	SCV000758043	benign	Early infantile epileptic encephalopathy with suppression bursts	2025-02-03	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002312572	SCV000847329	likely benign	Inborn genetic diseases	2016-07-25	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.
Eurofins Ntd Llc (ga)	RCV000126450	SCV000858962	benign	not specified	2018-01-12	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV004703403	SCV005210152	likely benign	not provided		criteria provided, single submitter	not provided