ClinVar Miner

Variants in gene KCNH2

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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 risk factor not provided total
372 185 794 478 90 2 417 1878

Condition and significance breakdown #

Total conditions: 44
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Long QT syndrome 174 55 550 254 32 1 1 1041
Arrhythmia 6 5 218 250 35 0 0 514
not provided 183 90 110 81 30 0 44 514
Congenital long QT syndrome 1 5 0 0 0 0 356 357
Long QT syndrome 2 60 30 100 14 15 1 2 211
not specified 1 1 45 79 43 0 0 160
Cardiovascular phenotype 35 13 42 43 12 0 0 144
Cardiac arrhythmia 19 3 1 1 4 0 0 28
Short QT syndrome 1; Long QT syndrome 2 4 1 13 0 0 0 0 18
none provided 1 0 2 3 11 0 0 17
Short QT syndrome 1 3 0 7 0 0 0 0 10
Long QT syndrome 1 0 3 2 1 0 0 1 7
SUDDEN INFANT DEATH SYNDROME 0 0 0 0 0 0 7 7
Inborn genetic diseases 3 0 3 0 0 0 0 6
short QT syndrome 0 0 0 0 0 0 5 5
Acquired long QT syndrome 0 0 0 0 0 0 3 3
Hypertrophic cardiomyopathy 0 0 2 1 0 0 0 3
Long QT syndrome 1/2, digenic 3 0 0 0 0 0 0 3
Brugada syndrome 0 1 0 1 0 0 0 2
Sudden unexplained death 0 0 1 1 0 0 0 2
Ventricular tachycardia 0 0 2 0 0 0 0 2
Wolff-Parkinson-White pattern 0 0 2 0 0 0 0 2
Arrhythmia; Hypertrophic cardiomyopathy 0 0 1 0 0 0 0 1
Arrhythmogenic right ventricular cardiomyopathy 0 0 0 1 0 0 0 1
Atrial fibrillation 0 0 0 0 1 0 0 1
Brugada syndrome 1 0 0 1 0 0 0 0 1
Catecholaminergic polymorphic ventricular tachycardia type 1 0 0 1 0 0 0 0 1
Conduction disorder of the heart 0 0 1 0 0 0 0 1
Long QT syndrome 2, acquired, susceptibility to 0 0 0 0 0 1 0 1
Long QT syndrome 2/3, digenic 1 0 0 0 0 0 0 1
Long QT syndrome 2/5 1 0 0 0 0 0 0 1
Long QT syndrome 2/9, digenic 1 0 0 0 0 0 0 1
Long QT syndrome, bradycardia-induced 1 0 0 0 0 0 0 1
Obesity; Prolonged QT interval 0 1 0 0 0 0 0 1
Paroxysmal familial ventricular fibrillation 1 0 0 1 0 0 0 0 1
Primary dilated cardiomyopathy 0 0 0 1 0 0 0 1
Primary familial hypertrophic cardiomyopathy 0 1 0 0 0 0 0 1
Prolonged QT interval 0 1 0 0 0 0 0 1
Romano-Ward syndrome 0 1 0 0 0 0 0 1
Seizures 0 0 1 0 0 0 0 1
Sudden cardiac arrest 0 0 1 0 0 0 0 1
Sudden cardiac death 0 0 0 0 0 0 1 1
Sudden cardiac death; Prolonged QT interval 0 0 1 0 0 0 0 1
Torsades de pointes 0 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 55
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 169 44 523 269 32 0 0 1037
Color Health, Inc 6 4 218 250 35 0 0 513
GeneDx 199 80 79 84 42 0 1 485
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust 0 0 0 0 0 0 415 415
Ambry Genetics 37 11 45 43 12 0 0 148
Illumina Clinical Services Laboratory,Illumina 2 1 77 12 11 0 0 103
Integrated Genetics/Laboratory Corporation of America 9 11 19 6 19 0 0 64
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 28 10 8 0 0 0 0 46
CeGaT Praxis fuer Humangenetik Tuebingen 2 2 16 17 0 0 0 37
Blueprint Genetics 9 9 11 2 0 1 0 32
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 2 8 11 3 7 1 0 32
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 5 19 1 5 0 0 31
Stanford Center for Inherited Cardiovascular Disease,Stanford University 6 6 14 1 2 0 0 29
OMIM 26 0 0 0 0 1 0 27
Athena Diagnostics Inc 0 0 6 5 15 0 0 26
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 2 3 5 5 11 0 0 26
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 0 7 6 4 0 0 17
Mendelics 0 0 13 0 3 0 0 16
CSER _CC_NCGL, University of Washington 0 0 14 2 0 0 0 16
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 2 0 10 1 2 0 0 15
Fulgent Genetics,Fulgent Genetics 3 1 9 0 0 0 0 13
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 2 1 4 2 0 0 0 9
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 4 2 1 0 0 7
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 2 2 3 0 0 0 0 7
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 1 5 0 0 0 0 7
PreventionGenetics, PreventionGenetics 0 0 0 0 5 0 0 5
Center for Human Genetics,University of Leuven 1 1 3 0 0 0 0 5
Institute of Human Genetics, University of Leipzig Medical Center 0 1 3 1 0 0 0 5
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 2 2 0 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 0 4 4
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 4 0 0 0 0 4
Medical Research Institute,Tokyo Medical and Dental University 0 3 0 0 0 0 0 3
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 2 0 0 0 0 2
Center for Medical Genetics Ghent,University of Ghent 0 2 0 0 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 2 0 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 2 0 0 0 0 2
Center of Genomic medicine, Geneva,University Hospital of Geneva 2 0 0 0 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 1 1 0 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 0 0 0 0 0 0 2
New York Genome Center 0 1 1 0 0 0 0 2
Baylor Genetics 0 0 1 0 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories,Greenwood Genetic Center 0 0 1 0 0 0 0 1
Clinical Genetics laboratory, University of Goettingen 0 1 0 0 0 0 0 1
Institute of Medical Genetics and Genomics,Sir Ganga Ram Hospital 1 0 0 0 0 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 0 0 1
Institute of Human Genetics, Klinikum rechts der Isar 0 1 0 0 0 0 0 1
McDonald Lab; Albert Einstein College of Medicine 1 0 0 0 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 1 0 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 0 0 0 0 0 1
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 0 1 0 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 0 1 0 0 0 0 1
RBHT Clinical Genetics and Genomics Laboratory,Royal Brompton and Harefield NHS Foundation Trust 0 0 1 0 0 0 0 1
Cavalleri Lab, Royal College of Surgeons in Ireland 0 1 0 0 0 0 0 1
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego 0 0 0 1 0 0 0 1
Cardiogenomic Section,Hospital Ramos Mejia 1 0 0 0 0 0 0 1

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