ClinVar Miner

Variants in gene KCNH2

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Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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 not provided total
626 359 1787 1247 173 430 3817

Condition and significance breakdown #

Total conditions: 60
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Long QT syndrome 389 94 1368 940 53 2 2785
Cardiovascular phenotype 140 68 379 426 23 0 1030
Cardiac arrhythmia 43 23 433 427 39 0 963
not provided 212 149 347 160 106 44 938
Congenital long QT syndrome 6 19 0 0 1 356 370
Long QT syndrome 2 107 86 130 14 17 2 328
not specified 1 1 75 101 63 0 224
Short QT syndrome type 1; Long QT syndrome 2 7 5 134 15 1 0 162
KCNH2-related disorder 5 3 9 23 2 0 42
Short QT syndrome type 1 12 1 9 0 0 0 22
Long QT syndrome 1 0 3 2 1 0 1 7
SUDDEN INFANT DEATH SYNDROME 0 0 0 0 0 7 7
Short QT syndrome 0 0 0 0 0 5 5
Ovarian serous cystadenocarcinoma 0 0 0 0 0 4 4
Acquired long QT syndrome 0 0 0 0 0 3 3
Brugada syndrome 1 0 2 1 0 0 0 3
Hypertrophic cardiomyopathy 0 0 2 1 0 0 3
Long QT syndrome 1/2, digenic 3 0 0 0 0 0 3
Brugada syndrome 0 1 0 1 0 0 2
Cervical cancer 0 0 0 0 0 2 2
Familial cancer of breast 0 0 0 0 0 2 2
Malignant tumor of esophagus 0 0 0 0 0 2 2
Prolonged QT interval 0 1 1 0 0 0 2
Sarcoma 0 0 0 0 0 2 2
Sudden unexplained death 0 0 1 1 0 0 2
Ventricular tachycardia 0 0 2 0 0 0 2
Wolff-Parkinson-White pattern 0 0 2 0 0 0 2
Acute myeloid leukemia 0 0 0 0 0 1 1
Arrhythmogenic right ventricular cardiomyopathy 0 0 0 1 0 0 1
Atrial fibrillation 0 0 0 0 1 0 1
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency 1 0 0 0 0 0 1
Cardiac arrhythmia; Hypertrophic cardiomyopathy 0 0 1 0 0 0 1
Catecholaminergic polymorphic ventricular tachycardia 1 0 0 1 0 0 0 1
Cholangiocarcinoma 0 0 0 0 0 1 1
Colon adenocarcinoma 0 0 0 0 0 1 1
Conduction disorder of the heart 0 0 1 0 0 0 1
Familial pancreatic carcinoma 0 0 0 0 0 1 1
Hypertrophic cardiomyopathy 26 1 0 0 0 0 0 1
Inborn genetic diseases 0 0 1 0 0 0 1
Long QT syndrome 2/3, digenic 1 0 0 0 0 0 1
Long QT syndrome 2/5, digenic 1 0 0 0 0 0 1
Long QT syndrome 2/9, digenic 1 0 0 0 0 0 1
Long QT syndrome, bradycardia-induced 1 0 0 0 0 0 1
Lung cancer 0 0 0 0 0 1 1
Nonpapillary renal cell carcinoma 0 0 0 0 0 1 1
Obesity; Prolonged QT interval 0 1 0 0 0 0 1
Ovarian cancer 0 0 0 0 0 1 1
Papillary renal cell carcinoma type 1 0 0 0 0 0 1 1
Primary dilated cardiomyopathy 0 0 0 1 0 0 1
Primary familial dilated cardiomyopathy 0 1 0 0 0 0 1
Primary familial hypertrophic cardiomyopathy 0 1 0 0 0 0 1
Progressive familial heart block 0 0 1 0 0 0 1
Reclassified - variant of unknown significance 0 0 1 0 0 0 1
Sudden cardiac arrest 0 0 1 0 0 0 1
Sudden cardiac death 0 0 0 0 0 1 1
Thymoma 0 0 0 0 0 1 1
Torsades de pointes 0 0 0 0 1 0 1
Uterine carcinosarcoma 0 0 0 0 0 1 1
Uterine corpus endometrial carcinoma 0 0 0 0 0 1 1
Ventricular fibrillation, paroxysmal familial, type 1 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 118
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 381 74 1201 889 47 0 2592
Ambry Genetics 130 56 373 426 23 0 1008
Color Diagnostics, LLC DBA Color Health 19 18 432 426 36 0 931
GeneDx 206 118 256 126 123 1 828
All of Us Research Program, National Institutes of Health 16 10 390 259 21 0 696
Cardiovascular Biomedical Research Unit, Royal Brompton & Harefield NHS Foundation Trust 0 0 0 0 0 415 415
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 25 15 52 36 26 0 154
Fulgent Genetics, Fulgent Genetics 3 4 116 14 1 0 138
CeGaT Center for Human Genetics Tuebingen 19 6 26 57 3 0 111
Illumina Laboratory Services, Illumina 3 2 67 11 11 0 94
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 17 17 22 21 15 0 92
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 4 6 18 19 16 0 63
Mayo Clinic Laboratories, Mayo Clinic 8 11 15 12 12 0 58
MVZ Martinsried, Medicover Genetics 32 10 8 0 0 0 50
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 23 7 19 0 0 0 49
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 4 18 18 1 5 0 46
Breakthrough Genomics, Breakthrough Genomics 0 0 7 14 22 0 43
PreventionGenetics, part of Exact Sciences 2 2 8 23 7 0 42
Athena Diagnostics 0 0 16 6 16 0 38
Blueprint Genetics 10 9 11 2 0 0 32
Clinical Genetics, Academic Medical Center 0 1 4 4 20 0 29
Stanford Center for Inherited Cardiovascular Disease, Stanford University 6 6 14 1 2 0 29
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 2 2 16 7 0 28
OMIM 26 0 1 0 0 0 27
AiLife Diagnostics, AiLife Diagnostics 0 3 21 0 0 0 24
Mendelics 6 0 11 0 5 0 22
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 0 7 6 4 0 17
Revvity Omics, Revvity 4 1 12 0 0 0 17
CSER _CC_NCGL, University of Washington 0 0 14 2 0 0 16
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 1 1 11 3 0 16
Eurofins Ntd Llc (ga) 2 0 10 1 2 0 15
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 3 0 8 1 0 0 12
Clinical Genetics Laboratory, Skane University Hospital Lund 4 3 5 0 0 0 12
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 12 12
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 2 6 2 0 1 0 11
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 8 2 0 0 10
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute 2 1 4 2 0 0 9
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 3 4 3 0 0 0 9
New York Genome Center 0 1 8 0 0 0 9
Institute of Human Genetics, University of Leipzig Medical Center 2 2 3 1 0 0 8
Juno Genomics, Hangzhou Juno Genomics, Inc 1 5 2 0 0 0 8
KardioGenetik, Herz- und Diabeteszentrum NRW 4 2 2 0 0 0 8
3billion 2 1 4 0 0 0 7
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 1 5 0 0 0 7
Dasa 6 0 1 0 0 0 7
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 4 2 1 0 7
Clinical Genomics Laboratory, Washington University in St. Louis 2 2 2 0 0 0 6
Dept of Medical Biology, Uskudar University 1 1 4 0 0 0 6
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 5 1 0 0 0 0 6
Baylor Genetics 4 0 1 0 0 0 5
Center for Human Genetics, University of Leuven 1 1 3 0 0 0 5
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 1 3 0 5
Cohesion Phenomics 0 0 0 0 5 0 5
Genome-Nilou Lab 0 0 0 0 5 0 5
GenomeConnect, ClinGen 0 0 0 0 0 5 5
Variantyx, Inc. 1 4 0 0 0 0 5
Clinical Genomics Laboratory, Stanford Medicine 0 0 4 0 0 0 4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 0 1 2 0 4
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 1 2 0 0 0 4
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 2 2 0 0 0 4
Institute of Human Genetics Munich, TUM University Hospital 2 2 0 0 0 0 4
Laboratory of Genetics, Children's Clinical University Hospital Latvia 1 1 1 1 0 0 4
Lildballe Lab, Aarhus University Hospital 0 1 3 0 0 0 4
Molecular Genetics Laboratory, Motol Hospital 2 2 0 0 0 0 4
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 3 1 0 0 0 0 4
Department of Human Genetics, Hannover Medical School 0 3 0 0 0 0 3
Institute of Immunology and Genetics Kaiserslautern 1 2 0 0 0 0 3
MVZ Medizinische Genetik Mainz 1 2 0 0 0 0 3
Medical Research Institute, Tokyo Medical and Dental University 0 3 0 0 0 0 3
Molecular Genetics, Royal Melbourne Hospital 1 0 2 0 0 0 3
Roden Lab, Vanderbilt University Medical Center 0 3 0 0 0 0 3
deCODE genetics, Amgen 1 2 0 0 0 0 3
Biology Molecular and Stem Cell Facilities Laboratory, National Cardiovascular Center, Harapan Kita Hospital 2 0 0 0 0 0 2
Center for Medical Genetics Ghent, University of Ghent 0 2 0 0 0 0 2
Center of Genomic medicine, Geneva, University Hospital of Geneva 2 0 0 0 0 0 2
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 0 2 0 0 0 2
Human Genetics Bochum, Ruhr University Bochum 1 0 1 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 2 0 0 0 0 2
Kids Neuroscience Centre, Sydney Children's Hospitals Network 1 1 0 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 2 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 2 0 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 2 0 0 0 2
MGZ Medical Genetics Center 1 0 1 0 0 0 2
Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences 1 1 0 0 0 0 2
Research Institute, Imperial College London Diabetes Centre 1 2 0 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 1 1 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 0 1 0 0 0 1
Cardiogenomic Section, Hospital Ramos Mejia 1 0 0 0 0 0 1
Cavalleri Lab, Royal College of Surgeons in Ireland 0 1 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 1
Centre of Medical Genetics, University Hospital Muenster 0 0 1 0 0 0 1
Clinical Genetics Laboratory, Region Ostergotland 0 1 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 0 0 0 0 1
Department of Molecular Genetics, Istishari Arab Hospital 0 1 0 0 0 0 1
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 1 0 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 1 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 0 0 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 0 1 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 1
Hadassah Hebrew University Medical Center 1 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 1 0 0 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 0 1 0 0 0 0 1
Institute of Human Genetics, University of Wuerzburg 0 1 0 0 0 0 1
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 1 0 0 0 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 0 1 0 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 0 1
McDonald Lab; Albert Einstein College of Medicine 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 1 0 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 1
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust 0 1 0 0 0 0 1
Pediatric Genomics Discovery Program, Yale University 0 1 0 0 0 0 1
Prenatal Diagnosis Center, Shandong Provincal Hospital 0 1 0 0 0 0 1
Royal Brompton Clinical Genetics And Genomics Laboratory, NHS South East Genomic Laboratory Hub 0 0 1 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 1

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