Submissions for variant NM_172107.4(KCNQ2):c.2529C>T (p.Ser843=)

gnomAD frequency: 0.00045  dbSNP: rs140674819

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000126474	SCV000169981	benign	not specified	2014-04-10	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	RCV000457843	SCV000555710	benign	Early infantile epileptic encephalopathy with suppression bursts	2024-01-31	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002316383	SCV000849643	likely benign	Inborn genetic diseases	2017-05-05	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	RCV001528573	SCV002064058	likely benign	not provided	2023-12-01	criteria provided, single submitter	clinical testing	KCNQ2: BP4, BP7
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001528573	SCV001740510	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000126474	SCV001932353	benign	not specified		no assertion criteria provided	clinical testing