ClinVar Miner

Variants in gene HCN4

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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 2 211 117 49 353

Condition and significance breakdown #

Total conditions: 17
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Brugada syndrome 8 3 0 122 63 29 217
not provided 0 1 81 4 19 105
not specified 0 0 7 61 30 94
Cardiovascular phenotype 0 0 28 31 18 77
Sick sinus syndrome 2, autosomal dominant 8 0 0 0 1 9
Sick sinus syndrome 2, autosomal dominant; Brugada syndrome 8 0 0 4 0 0 4
Brugada syndrome 0 0 2 0 0 2
Hypertrophic cardiomyopathy 0 0 2 0 0 2
Ventricular tachycardia 0 0 2 0 0 2
Arrhythmogenic right ventricular cardiomyopathy 0 0 1 0 0 1
Cardiac arrest 0 0 1 0 0 1
Inborn genetic diseases 0 0 1 0 0 1
Left ventricular noncompaction 0 0 0 0 1 1
Primary dilated cardiomyopathy 0 0 1 0 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: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 1 0 120 63 29 213
GeneDx 0 0 35 58 28 121
Ambry Genetics 0 0 29 31 18 78
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 1 39 2 21 63
Athena Diagnostics Inc 0 0 7 3 11 21
Biesecker Lab/Human Development Section,National Institutes of Health 0 0 11 2 2 15
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 12 12
OMIM 10 0 0 0 0 10
PreventionGenetics 0 0 0 0 6 6
Blueprint Genetics, 0 0 5 0 0 5
Stanford Center for Inherited Cardiovascular Disease,Stanford University 0 0 5 0 0 5
Fulgent Genetics 0 0 4 0 0 4
Center for Human Genetics,University of Leuven 0 0 3 0 0 3
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 1 1 0 2
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 0 2 0 0 2
CSER_CC_NCGL; University of Washington Medical Center 0 0 1 0 0 1
Scripps Translational Science Institute,Scripps Health and The Scripps Research Institute 0 1 0 0 0 1
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 1 0 0 1
Phosphorus, Inc. 0 0 0 0 1 1

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