Submissions for variant NM_004519.4(KCNQ3):c.1059C>T (p.Ser353=)

gnomAD frequency: 0.01009  dbSNP: rs35413925

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000117350	SCV000169991	benign	not specified	2013-02-07	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.
Invitae	RCV000466449	SCV000555734	benign	Benign neonatal seizures	2024-02-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002312152	SCV000847309	benign	Inborn genetic diseases	2016-03-24	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.
Fulgent Genetics, Fulgent Genetics	RCV002505043	SCV002804835	likely benign	Seizures, benign familial neonatal, 2	2021-12-23	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000117350	SCV000151533	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.