Submissions for variant NM_172107.4(KCNQ2):c.912C>T (p.Phe304=)

gnomAD frequency: 0.07323  dbSNP: rs2297385

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000117349	SCV000151532	benign	not specified	2013-04-25	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000117349	SCV000316433	benign	not specified		criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002312151	SCV000846330	benign	Inborn genetic diseases	2015-12-31	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: 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.
Invitae	RCV001082343	SCV001000217	benign	Early infantile epileptic encephalopathy with suppression bursts	2024-02-01	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000860236	SCV001144321	benign	not provided	2018-12-06	criteria provided, single submitter	clinical testing
GeneDx	RCV000860236	SCV001887494	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000117349	SCV001928633	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000117349	SCV001953521	benign	not specified		no assertion criteria provided	clinical testing