Submissions for variant NM_004519.4(KCNQ3):c.2330G>A (p.Arg777Gln)

gnomAD frequency: 0.00034  dbSNP: rs201328910

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000725514	SCV000241599	benign	not provided	2019-11-19	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000725514	SCV000337441	uncertain significance	not provided	2015-11-24	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000388137	SCV000471887	likely benign	Seizures, benign familial neonatal, 2	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina	RCV000278630	SCV000471888	likely benign	Benign neonatal seizures	2016-06-14	criteria provided, single submitter	clinical testing
Invitae	RCV000278630	SCV000769700	likely benign	Benign neonatal seizures	2023-12-21	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002317116	SCV000851567	likely benign	Inborn genetic diseases	2021-06-22	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.