ClinVar Miner

Variants in gene HCN4

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Gene type:

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 not provided total
14 15 1243 825 97 6 2061

Condition and significance breakdown #

Total conditions: 33
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Brugada syndrome 8 3 8 973 641 43 0 1666
Cardiovascular phenotype 2 3 505 411 19 0 938
not provided 4 3 212 99 47 1 335
not specified 0 0 38 86 56 0 156
Sick sinus syndrome 2, autosomal dominant 8 1 50 3 39 1 100
Sick sinus syndrome 2, autosomal dominant; Brugada syndrome 8; Epilepsy, idiopathic generalized, susceptibility to, 18 0 0 62 6 1 0 69
HCN4-related disorder 0 2 12 23 7 0 44
Sick sinus syndrome 2, autosomal dominant; Brugada syndrome 8 0 0 7 0 0 0 7
Cardiomyopathy 0 0 2 1 2 0 5
Epilepsy, idiopathic generalized, susceptibility to, 18 1 0 3 0 0 0 4
Left ventricular noncompaction cardiomyopathy 1 2 1 0 0 0 4
Brugada syndrome 0 0 3 0 0 0 3
Hypertrophic cardiomyopathy 0 0 2 0 0 0 2
Long QT syndrome 0 0 1 0 1 0 2
Uterine corpus endometrial carcinoma 0 0 0 0 0 2 2
Ventricular tachycardia 0 0 2 0 0 0 2
Arrhythmogenic right ventricular cardiomyopathy 0 0 1 0 0 0 1
Atrial fibrillation 0 0 1 0 0 0 1
Atrial fibrillation; Cardiomyopathy; Hypertrophic cardiomyopathy; Ventricular tachycardia 0 0 0 0 1 0 1
Cardiac arrest 0 0 1 0 0 0 1
Cardiac arrhythmia 0 0 1 0 0 0 1
Congestive heart failure 0 0 0 0 1 0 1
Inborn genetic diseases 0 0 1 0 0 0 1
Left ventricular noncompaction 0 0 0 0 1 0 1
Primary dilated cardiomyopathy 0 0 1 0 0 0 1
Primary dilated cardiomyopathy; Cardiomyopathy 0 0 0 1 0 0 1
Sick sinus syndrome 2, autosomal dominant; Epilepsy, idiopathic generalized, susceptibility to, 18 0 0 1 0 0 0 1
Sick sinus syndrome 2, autosomal dominant; Left ventricular noncompaction 0 0 0 0 0 1 1
Sinoatrial node disorder 0 0 1 0 0 0 1
Sudden cardiac death 0 0 1 0 0 0 1
Sudden cardiac death; Sinus bradycardia 0 0 1 0 0 0 1
Tetralogy of Fallot 0 1 0 0 0 0 1
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 60
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 3 8 968 641 43 0 1663
Ambry Genetics 2 3 496 411 19 0 931
GeneDx 1 2 135 92 37 0 267
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 0 0 23 44 16 0 83
Illumina Laboratory Services, Illumina 0 0 40 3 38 0 81
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 34 18 28 0 80
Fulgent Genetics, Fulgent Genetics 0 0 62 6 1 0 69
Eurofins Ntd Llc (ga) 0 1 39 2 21 0 63
Clinical Genetics, Academic Medical Center 2 0 12 3 35 0 52
PreventionGenetics, part of Exact Sciences 0 1 12 23 13 0 49
Mayo Clinic Laboratories, Mayo Clinic 0 0 11 16 20 0 47
Breakthrough Genomics, Breakthrough Genomics 0 0 7 7 27 0 41
Athena Diagnostics 0 0 9 8 21 0 38
CeGaT Center for Human Genetics Tuebingen 0 0 5 16 6 0 27
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 5 19 3 0 27
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 2 0 10 11 2 0 25
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 4 5 14 0 23
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 0 1 10 11 0 23
Genome Diagnostics Laboratory, University Medical Center Utrecht 2 0 0 12 7 0 21
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 0 10 2 2 0 14
AiLife Diagnostics, AiLife Diagnostics 0 0 12 0 0 0 12
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego 0 0 4 2 5 0 11
OMIM 9 0 1 0 0 0 10
Revvity Omics, Revvity 0 0 10 0 0 0 10
Blueprint Genetics 0 0 7 0 0 0 7
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 0 5 0 0 0 5
Neuberg Centre For Genomic Medicine, NCGM 0 0 4 0 0 0 4
New York Genome Center 0 0 4 0 0 0 4
Center for Human Genetics, University of Leuven 0 0 3 0 0 0 3
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 3 3
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 0 0 3 0 0 3
MVZ Martinsried, Medicover Genetics 0 0 3 0 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 3 0 0 0 3
3billion 0 1 1 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 2 0 0 0 2
Clinical Genetics Laboratory, Skane University Hospital Lund 0 1 1 0 0 0 2
Clinical Genomics Laboratory, Stanford Medicine 0 0 2 0 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 2 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 2 0 0 0 2
Klaassen Lab, Charite University Medicine Berlin 0 2 0 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 1 1 0 0 2
Mendelics 0 0 1 0 1 0 2
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute 0 0 1 0 0 0 1
Baylor Genetics 0 0 1 0 0 0 1
CSER _CC_NCGL, University of Washington 0 0 1 0 0 0 1
Dasa 0 0 0 0 1 0 1
Department of Genetics and Molecular Biology, Isfahan University of Medical Sciences 0 0 1 0 0 0 1
Dept of Medical Biology, Uskudar University 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 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 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 1
Institute of Human Genetics, University of Wuerzburg 0 0 1 0 0 0 1
KardioGenetik, Herz- und Diabeteszentrum NRW 0 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 1 0 0 0 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 0 1
Molecular Genetics Laboratory, Motol Hospital 0 1 0 0 0 0 1
Phosphorus, Inc. 0 0 0 0 1 0 1
Scripps Translational Science Institute, Scripps Health and The Scripps Research Institute 0 0 1 0 0 0 1

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