ClinVar Miner

Variants in gene KCNH2

Minimum submission review status: Collection method:
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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
292 145 368 229 64 2 416 1178

Condition and significance breakdown #

Total conditions: 38
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Long QT syndrome 77 32 239 129 24 0 1 475
not provided 180 85 95 9 15 0 44 411
Congenital long QT syndrome 0 0 0 0 0 0 356 356
Cardiovascular phenotype 34 14 45 41 12 0 0 144
not specified 1 0 36 72 36 0 0 139
Arrhythmia 0 1 29 38 22 0 0 90
Long QT syndrome 2 46 20 18 2 1 1 0 86
Cardiac arrhythmia 19 1 1 2 4 0 0 27
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 0 0 0 0 0 0 5 5
Short QT syndrome 1 2 0 2 0 0 0 0 4
Acquired long QT syndrome 0 0 0 0 0 0 3 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
Romano-Ward syndrome 1 2 0 0 0 0 0 3
Brugada syndrome 0 1 0 1 0 0 0 2
Hypertrophic cardiomyopathy 0 0 2 0 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
Sudden cardiac death 0 0 0 0 0 0 1 1
Sudden unexplained death 0 0 0 1 0 0 0 1
Torsades de pointes 0 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 43
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
GeneDx 198 78 79 70 30 0 1 455
Invitae 74 25 196 111 23 0 0 429
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust 0 0 0 0 0 0 415 415
Ambry Genetics 34 12 46 41 12 0 0 145
Color 0 1 29 38 22 0 0 90
Illumina Clinical Services Laboratory,Illumina 0 1 28 14 0 0 0 43
Integrated Genetics/Laboratory Corporation of America 7 5 10 3 9 0 0 34
Blueprint Genetics, 9 9 11 2 0 1 0 32
Stanford Center for Inherited Cardiovascular Disease,Stanford University 6 6 14 1 2 0 0 29
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 2 19 1 5 0 0 28
OMIM 26 0 0 0 0 1 0 27
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 14 4 8 0 0 0 0 26
Athena Diagnostics Inc 0 0 4 3 12 0 0 19
Biesecker Lab/Human Development Section,National Institutes of Health 0 0 7 6 4 0 0 17
CSER_CC_NCGL; University of Washington Medical Center 0 0 14 2 0 0 0 16
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 2 0 10 1 2 0 0 15
Fulgent Genetics 3 1 9 0 0 0 0 13
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 2 2 8 0 0 0 0 12
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 1 2 2 2 2 0 0 9
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 4 2 1 0 0 7
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
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 0 1 0 2 0 0 0 3
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
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 2 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
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 0 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
RBHT Clinical Genetics and Genomics Laboratory,Royal Brompton and Harefield NHS Foundation Trust 0 0 1 0 0 0 0 1

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