Submissions for variant NM_172107.4(KCNQ2):c.1503C>G (p.Ala501=)

dbSNP: rs1801545

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000117340	SCV000316426	benign	not specified		criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000576403	SCV000677324	benign	Seizures, benign familial neonatal, 1	2017-04-26	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002312146	SCV000846192	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: 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.
Invitae	RCV000860487	SCV001000547	benign	Early infantile epileptic encephalopathy with suppression bursts	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001610411	SCV001834687	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000117340	SCV000151522	likely benign	not specified		no assertion criteria provided	clinical testing	Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000117340	SCV001744413	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000117340	SCV001928574	benign	not specified		no assertion criteria provided	clinical testing