ClinVar Miner

Variants in gene KCNH2

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
326 162 512 298 80 2 416 1418

Condition and significance breakdown #

Total conditions: 39
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Long QT syndrome 115 42 337 158 32 1 1 664
not provided 182 90 105 73 30 0 44 502
Congenital long QT syndrome 1 4 0 0 0 0 356 357
Long QT syndrome 2 55 22 94 13 15 1 0 190
Cardiovascular phenotype 34 15 43 42 12 0 0 144
not specified 1 1 36 75 37 0 0 144
Arrhythmia 0 1 29 38 22 0 0 90
Cardiac arrhythmia 19 0 1 2 4 0 0 26
Short QT syndrome 1; Long QT syndrome 2 4 1 13 0 0 0 0 18
SUDDEN INFANT DEATH SYNDROME 0 0 0 0 0 0 7 7
Short QT syndrome 1 2 0 3 0 0 0 0 5
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
Inborn genetic diseases 2 0 1 0 0 0 0 3
Long QT syndrome 1 0 1 0 1 0 0 1 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
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, LQT1 subtype 0 0 1 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
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: 49
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 112 32 310 195 32 0 0 681
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 34 13 44 42 12 0 0 145
Illumina Clinical Services Laboratory,Illumina 0 1 77 12 11 0 0 101
Color 0 1 29 38 22 0 0 90
Integrated Genetics/Laboratory Corporation of America 7 5 8 5 9 0 0 34
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 22 4 8 0 0 0 0 34
Blueprint Genetics 9 9 11 2 0 1 0 32
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 1 4 19 1 5 0 0 30
Stanford Center for Inherited Cardiovascular Disease, Stanford University 6 6 14 1 2 0 0 29
CeGaT Praxis fuer Humangenetik Tuebingen 2 2 14 10 0 0 0 28
OMIM 26 0 0 0 0 1 0 27
Athena Diagnostics Inc 0 0 5 5 15 0 0 25
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 2 6 9 0 2 1 0 20
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
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 3 3 2 6 0 0 15
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
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 4 2 1 0 0 7
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 1 1 2 2 0 0 0 6
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
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
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 1 1 0 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
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 1 0 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 1 1 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 0 2 2
Institute of Human Genetics,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 Russian Research Center 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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