Submissions for variant NM_172107.4(KCNQ2):c.2266G>A (p.Gly756Ser)

gnomAD frequency: 0.00034  dbSNP: rs200909197

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001705015	SCV000241437	benign	not provided	2020-08-27	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000636266	SCV000757705	likely benign	Early infantile epileptic encephalopathy with suppression bursts	2025-01-20	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002317109	SCV000851767	likely benign	Inborn genetic diseases	2022-12-21	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	RCV001705015	SCV004150908	likely benign	not provided	2022-07-01	criteria provided, single submitter	clinical testing	KCNQ2: PP2, BS2
Channelopathy-Associated Epilepsy Research Center	RCV003315311	SCV004015041	not provided	Complex neurodevelopmental disorder		no assertion provided	literature only
PreventionGenetics, part of Exact Sciences	RCV004537579	SCV004737078	likely benign	KCNQ2-related disorder	2023-08-24	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).