Submissions for variant NM_005477.3(HCN4):c.107G>A (p.Gly36Glu)

gnomAD frequency: 0.04452  dbSNP: rs143090627

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	RCV000153356	SCV000050818	benign	not specified	2013-06-24	criteria provided, single submitter	research
GeneDx	RCV000153356	SCV000168798	benign	not specified	2014-01-23	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.
Eurofins Ntd Llc (ga)	RCV000153356	SCV000202840	benign	not specified	2016-04-07	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000153356	SCV000311089	benign	not specified		criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000619819	SCV000735006	benign	Cardiovascular phenotype	2015-08-01	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.
Illumina Laboratory Services, Illumina	RCV001119029	SCV001277365	benign	Sick sinus syndrome 2, autosomal dominant	2018-01-18	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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Invitae	RCV001521286	SCV001730596	benign	Brugada syndrome 8	2024-02-01	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000153356	SCV003933807	likely benign	not specified	2023-05-28	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000153356	SCV001919137	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001705912	SCV001926848	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000153356	SCV001951482	benign	not specified		no assertion criteria provided	clinical testing