ClinVar Miner

Variants in gene HCN4

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Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
13 13 1118 760 95 1 1 1874

Condition and significance breakdown #

Total conditions: 29
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Brugada syndrome 8 3 8 872 583 43 0 0 1507
Cardiovascular phenotype 2 1 430 377 19 0 0 828
not provided 4 3 194 91 45 0 1 311
not specified 0 0 29 70 53 0 0 131
Sick sinus syndrome 2, autosomal dominant 8 0 48 3 39 0 0 96
Sick sinus syndrome 2, autosomal dominant; Brugada syndrome 8; Epilepsy, idiopathic generalized, susceptibility to, 18 0 0 62 6 1 0 0 69
HCN4-related disorder 0 1 12 23 7 0 0 43
Sick sinus syndrome 2, autosomal dominant; Brugada syndrome 8 0 0 7 0 0 0 0 7
Cardiomyopathy 0 0 2 1 2 0 0 5
Left ventricular noncompaction cardiomyopathy 1 2 1 0 0 0 0 4
Epilepsy, idiopathic generalized, susceptibility to, 18 0 0 2 0 0 1 0 3
Brugada syndrome 0 0 2 0 0 0 0 2
Hypertrophic cardiomyopathy 0 0 2 0 0 0 0 2
Long QT syndrome 0 0 1 0 1 0 0 2
Ventricular tachycardia 0 0 2 0 0 0 0 2
Arrhythmogenic right ventricular cardiomyopathy 0 0 1 0 0 0 0 1
Atrial fibrillation 0 0 1 0 0 0 0 1
Atrial fibrillation; Cardiomyopathy; Hypertrophic cardiomyopathy; Ventricular tachycardia 0 0 0 0 1 0 0 1
Cardiac arrest 0 0 1 0 0 0 0 1
Cardiac arrhythmia 0 0 1 0 0 0 0 1
Congestive heart failure 0 0 0 0 1 0 0 1
Inborn genetic diseases 0 0 1 0 0 0 0 1
Left ventricular noncompaction 0 0 0 0 1 0 0 1
Primary dilated cardiomyopathy 0 0 1 0 0 0 0 1
Primary dilated cardiomyopathy; Cardiomyopathy 0 0 0 1 0 0 0 1
Sick sinus syndrome 2, autosomal dominant; Epilepsy, idiopathic generalized, susceptibility to, 18 0 0 1 0 0 0 0 1
Sinoatrial node disorder 0 0 1 0 0 0 0 1
Sudden cardiac death 0 0 1 0 0 0 0 1
Sudden cardiac death; Sinus bradycardia 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 53
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Labcorp Genetics (formerly Invitae), Labcorp 3 8 867 583 43 0 0 1504
Ambry Genetics 2 1 424 377 19 0 0 823
GeneDx 1 2 122 92 37 0 0 254
Illumina Laboratory Services, Illumina 0 0 40 3 38 0 0 81
Fulgent Genetics, Fulgent Genetics 0 0 62 6 1 0 0 69
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 0 0 18 30 16 0 0 64
Eurofins Ntd Llc (ga) 0 1 39 2 21 0 0 63
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 25 13 23 0 0 61
Clinical Genetics, Academic Medical Center 2 0 12 3 35 0 0 52
PreventionGenetics, part of Exact Sciences 0 1 12 23 13 0 0 49
Breakthrough Genomics, Breakthrough Genomics 0 0 7 7 27 0 0 41
Athena Diagnostics 0 0 8 7 18 0 0 33
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 5 19 3 0 0 27
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 2 0 10 11 2 0 0 25
CeGaT Center for Human Genetics Tuebingen 0 0 5 12 6 0 0 23
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 0 1 10 11 0 0 23
Genome Diagnostics Laboratory, University Medical Center Utrecht 2 0 0 12 7 0 0 21
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 3 4 10 0 0 17
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 0 10 2 2 0 0 14
AiLife Diagnostics, AiLife Diagnostics 0 0 12 0 0 0 0 12
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego 0 0 4 2 5 0 0 11
OMIM 8 0 1 0 0 1 0 10
Revvity Omics, Revvity 0 0 8 0 0 0 0 8
Mayo Clinic Laboratories, Mayo Clinic 0 0 7 0 0 0 0 7
Blueprint Genetics 0 0 7 0 0 0 0 7
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 0 5 0 0 0 0 5
New York Genome Center 0 0 4 0 0 0 0 4
Neuberg Centre For Genomic Medicine, NCGM 0 0 4 0 0 0 0 4
Center for Human Genetics, University of Leuven 0 0 3 0 0 0 0 3
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 3 0 0 0 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 1 1 0 0 0 2
Mendelics 0 0 1 0 1 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 2 0 0 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 2 0 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 2 0 0 0 0 2
Klaassen Lab, Charite University Medicine Berlin 0 2 0 0 0 0 0 2
Clinical Genomics Laboratory, Stanford Medicine 0 0 2 0 0 0 0 2
Baylor Genetics 0 0 1 0 0 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 1 0 0 0 0 1
CSER _CC_NCGL, University of Washington 0 0 1 0 0 0 0 1
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute 0 0 1 0 0 0 0 1
Scripps Translational Science Institute, Scripps Health and The Scripps Research Institute 0 0 1 0 0 0 0 1
Institute of Human Genetics, University of Wuerzburg 0 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 0 1
Phosphorus, Inc. 0 0 0 0 1 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 1 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 1 0 0 0 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 0 0 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 0 1
Henan Key Laboratory of Chronic Disease Management, Central China Fuwai Hospital of Zhengzhou University, Fuwai Central China Cardiovascular Hospital & Central China Branch of National Center for Cardiovascular Diseases 1 0 0 0 0 0 0 1
Dept of Medical Biology, Uskudar University 0 0 1 0 0 0 0 1
KardioGenetik, Herz- und Diabeteszentrum NRW 0 0 1 0 0 0 0 1

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