ClinVar Miner

Variants in gene HCN4

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Gene type:
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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 total
11 3 448 234 82 718

Condition and significance breakdown #

Total conditions: 25
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Brugada syndrome 8 3 0 346 170 31 548
not provided 0 2 95 49 30 172
not specified 0 0 7 61 31 95
Sick sinus syndrome 2, autosomal dominant 8 0 40 3 40 89
Cardiovascular phenotype 0 0 23 35 19 77
Cardiomyopathy 0 0 2 1 2 5
Sick sinus syndrome 2, autosomal dominant; Brugada syndrome 8 0 0 4 0 0 4
Hypertrophic cardiomyopathy 0 0 2 1 0 3
Ventricular tachycardia 0 0 3 0 0 3
Brugada syndrome 0 0 2 0 0 2
Arrhythmia 0 0 1 0 0 1
Arrhythmogenic right ventricular cardiomyopathy 0 0 1 0 0 1
Atrial fibrillation 0 0 1 0 0 1
Atrial fibrillation; Cardiomyopathy; Hypertrophic cardiomyopathy; Ventricular tachycardia 0 0 0 0 1 1
Cardiac arrest 0 0 1 0 0 1
Cardiomyopathy, left ventricular noncompaction 0 0 1 0 0 1
Congestive heart failure 0 0 0 0 1 1
Inborn genetic diseases 0 0 1 0 0 1
Left ventricular noncompaction 0 0 0 0 1 1
Long QT syndrome 0 0 0 0 1 1
Primary dilated cardiomyopathy 0 0 1 0 0 1
Primary dilated cardiomyopathy; Cardiomyopathy 0 0 0 1 0 1
Sinus node disease 0 0 1 0 0 1
Sudden cardiac death 0 1 0 0 0 1
Sudden cardiac death; Sinus bradycardia 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 26
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 1 0 342 181 31 555
GeneDx 0 0 35 69 34 138
Illumina Clinical Services Laboratory,Illumina 0 0 40 3 39 82
Ambry Genetics 0 0 24 35 19 78
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 1 39 2 21 63
Athena Diagnostics Inc 0 0 7 4 18 29
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 16 8 0 25
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 0 11 2 2 15
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 12 12
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego 0 0 4 3 5 12
OMIM 10 0 0 0 0 10
Blueprint Genetics 0 0 7 0 0 7
PreventionGenetics, PreventionGenetics 0 0 0 0 6 6
Stanford Center for Inherited Cardiovascular Disease,Stanford University 0 0 5 0 0 5
Fulgent Genetics,Fulgent Genetics 0 0 4 0 0 4
Center for Human Genetics,University of Leuven 0 0 3 0 0 3
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 0 3 0 0 3
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 1 1 0 2
Mendelics 0 0 1 0 1 2
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 0 1 0 1 2
CSER _CC_NCGL, University of Washington 0 0 1 0 0 1
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 0 0 1 0 0 1
Scripps Translational Science Institute,Scripps Health and The Scripps Research Institute 0 1 0 0 0 1
Institute of Human Genetics,University of Wuerzburg 0 0 1 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 1
Phosphorus, Inc. 0 0 0 0 1 1

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