Submissions for variant NM_005477.3(HCN4):c.3577G>C (p.Glu1193Gln)

gnomAD frequency: 0.00068  dbSNP: rs200507617

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	RCV000171641	SCV000050771	uncertain significance	not provided	2013-06-24	criteria provided, single submitter	research
Labcorp Genetics (formerly Invitae), Labcorp	RCV001084908	SCV000554481	benign	Brugada syndrome 8	2025-02-02	criteria provided, single submitter	clinical testing
GeneDx	RCV000171641	SCV000729881	likely benign	not provided	2021-03-30	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 24607718, 26230511, 26704558, 25642760, 28831623, 23861362, 30821013)
Ambry Genetics	RCV000619356	SCV000737745	likely benign	Cardiovascular phenotype	2016-10-07	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.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000171641	SCV001744639	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000171641	SCV001973514	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000171641	SCV001979598	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004535165	SCV004729561	likely benign	HCN4-related disorder	2019-05-28	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).