Submissions for variant NM_172107.4(KCNQ2):c.2265C>T (p.Tyr755=)

gnomAD frequency: 0.00011  dbSNP: rs563437123

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000863519	SCV000728602	likely benign	not provided	2019-05-28	criteria provided, single submitter	clinical testing
Invitae	RCV001406802	SCV001608760	likely benign	Early infantile epileptic encephalopathy with suppression bursts	2024-01-07	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002448900	SCV002733881	likely benign	Inborn genetic diseases	2019-06-29	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.
PreventionGenetics, part of Exact Sciences	RCV003945538	SCV004763535	likely benign	KCNQ2-related condition	2021-09-30	criteria provided, single submitter	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).