ClinVar Miner

Variants in gene KCNQ1

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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
439 399 926 749 167 356 2271

Condition and significance breakdown #

Total conditions: 59
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Long QT syndrome 310 144 595 552 48 2 1559
not provided 172 153 242 122 95 30 723
Cardiovascular phenotype 125 75 254 237 14 0 702
Cardiac arrhythmia 69 42 220 228 24 0 582
Long QT syndrome 1 143 94 102 27 21 24 365
Congenital long QT syndrome 15 21 0 0 0 276 297
not specified 4 2 61 100 54 0 197
Jervell and Lange-Nielsen syndrome 1 16 6 62 17 19 7 127
Atrial fibrillation, familial, 3 6 0 61 25 8 0 100
Short QT syndrome type 2 4 0 40 16 38 0 98
Atrial fibrillation, familial, 3; Beckwith-Wiedemann syndrome; Long QT syndrome 1; Jervell and Lange-Nielsen syndrome 1; Short QT syndrome type 2 15 11 46 8 0 0 80
KCNQ1-related disorder 22 4 4 18 0 1 49
Atrial fibrillation, familial, 3; Long QT syndrome 1; Jervell and Lange-Nielsen syndrome 1; Short QT syndrome type 2 6 9 7 0 0 0 22
Long QT syndrome 1; Jervell and Lange-Nielsen syndrome 1 5 2 2 0 0 0 9
Atrial fibrillation 0 3 0 0 0 4 7
Jervell and Lange-Nielsen syndrome 5 3 0 0 0 0 7
Atrial fibrillation, familial, 3; Long QT syndrome 1; Short QT syndrome type 2 0 3 2 0 0 0 5
SUDDEN INFANT DEATH SYNDROME 0 1 1 0 0 3 5
Congenital long QT syndrome; Jervell and Lange-Nielsen syndrome 1 2 0 0 0 0 3
Long QT syndrome 1/2, digenic 3 0 0 0 0 0 3
Wolff-Parkinson-White pattern 0 2 1 0 0 0 3
Atrial fibrillation, familial, 3; Long QT syndrome 1; Short QT syndrome type 2; Jervell and Lange-Nielsen syndrome 0 0 0 0 0 2 2
Beckwith-Wiedemann syndrome 2 0 0 0 0 0 2
Hearing impairment 1 0 1 0 0 0 2
Hypertrophic cardiomyopathy 0 0 1 1 0 0 2
Long QT syndrome 1, recessive 2 0 0 0 0 0 2
Lung cancer 0 0 0 0 0 2 2
Monogenic hearing loss 2 0 0 0 0 0 2
Nonpapillary renal cell carcinoma 0 0 0 0 0 2 2
Ovarian serous cystadenocarcinoma 0 0 0 0 0 2 2
See cases 1 0 0 1 0 0 2
Abnormality of the cardiovascular system 1 0 0 0 0 0 1
Acquired susceptibility to long QT syndrome 1 1 0 0 0 0 0 1
Acute myeloid leukemia 0 0 0 0 0 1 1
Autosomal dominant KCNQ1-related disease 0 0 1 0 0 0 1
Brugada syndrome 0 0 1 0 0 0 1
Cardiomyopathy 0 0 0 0 1 0 1
Conduction disorder of the heart 0 0 1 0 0 0 1
Congenital long QT syndrome; Jervell and Lange-Nielsen syndrome; Rare genetic deafness 0 1 0 0 0 0 1
Ear malformation 1 0 0 0 0 0 1
Familial prostate cancer 0 0 0 0 0 1 1
Inborn genetic diseases 0 1 0 0 0 0 1
Incidental Discovery 0 1 0 0 0 0 1
KCQ1-related disorders 0 1 0 0 0 0 1
Long QT syndrome 1; Short QT syndrome type 2 0 1 0 0 0 0 1
Long QT syndrome 2 1 0 0 0 0 0 1
Long QT syndrome; Paroxysmal atrial fibrillation 0 1 0 0 0 0 1
Malignant tumor of esophagus 0 0 0 0 0 1 1
Pituitary hormone deficiency 0 1 0 0 0 0 1
Polymorphic ventricular tachycardia 0 0 1 0 0 0 1
Prolonged QT interval 0 1 0 0 0 0 1
Recurrent spontaneous abortion 1 0 0 0 0 0 1
Sarcoma 0 0 0 0 0 1 1
Short QT syndrome 0 0 0 0 0 1 1
Short QT syndrome type 1 1 0 0 0 0 0 1
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 1 1
Torsades de pointes 0 0 0 0 0 1 1
Uterine carcinosarcoma 0 0 0 0 0 1 1
Ventricular fibrillation 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 150
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 307 104 455 517 46 0 1429
Ambry Genetics 114 71 249 237 14 0 685
GeneDx 155 103 185 104 116 2 665
Color Diagnostics, LLC DBA Color Health 63 40 219 228 22 0 572
All of Us Research Program, National Institutes of Health 40 25 230 150 14 0 459
Cardiovascular Biomedical Research Unit, Royal Brompton & Harefield NHS Foundation Trust 0 0 0 0 0 311 311
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 42 11 27 29 18 0 127
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 14 25 31 33 17 0 120
CeGaT Center for Human Genetics Tuebingen 29 18 21 35 1 0 104
Illumina Laboratory Services, Illumina 2 4 61 35 38 0 101
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 30 9 12 20 16 0 87
Fulgent Genetics, Fulgent Genetics 16 13 45 8 0 0 82
Mayo Clinic Laboratories, Mayo Clinic 21 12 9 10 13 0 65
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 42 9 8 1 0 0 60
Molecular Genetics Laboratory - Cardiogenetics, CHU de Nantes 37 10 5 0 3 0 55
MVZ Martinsried, Medicover Genetics 31 12 8 0 0 0 51
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 12 2 8 18 9 0 49
Breakthrough Genomics, Breakthrough Genomics 0 0 4 20 24 0 48
Stanford Center for Inherited Cardiovascular Disease, Stanford University 19 18 10 0 0 0 47
OMIM 46 0 0 0 0 0 46
PreventionGenetics, part of Exact Sciences 14 1 4 20 4 0 43
AiLife Diagnostics, AiLife Diagnostics 9 8 22 0 0 0 39
Clinical Genetics, Academic Medical Center 9 1 3 2 18 0 33
ClinGen Potassium Channel Arrhythmia Variant Curation Expert Panel, ClinGen 3 6 13 4 4 0 30
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 9 1 3 10 7 0 30
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 28 28
Clinical Genetics Laboratory, Skane University Hospital Lund 14 9 3 0 0 0 26
Revvity Omics, Revvity 10 6 7 0 0 0 23
Institute of Human Genetics, University of Leipzig Medical Center 9 9 3 1 0 0 22
Dept of Medical Biology, Uskudar University 10 6 5 0 0 0 21
Eurofins Ntd Llc (ga) 1 0 12 2 4 0 19
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 9 7 2 0 0 0 18
CSER _CC_NCGL, University of Washington 1 1 12 3 0 0 17
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 16 0 0 0 0 0 16
Genome Diagnostics Laboratory, University Medical Center Utrecht 3 1 2 4 5 0 15
Clinical Genetics Laboratory, Region Ostergotland 9 4 0 0 0 0 13
Juno Genomics, Hangzhou Juno Genomics, Inc 4 9 0 0 0 0 13
New York Genome Center 3 3 7 0 0 0 13
3billion 9 2 0 0 0 0 11
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 7 3 0 11
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 11 11
MGZ Medical Genetics Center 8 3 0 0 0 0 11
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 1 1 3 4 1 0 10
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 5 1 4 0 0 0 10
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 4 4 1 0 0 0 9
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 2 5 2 0 0 0 9
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 5 4 0 0 0 0 9
Variantyx, Inc. 7 2 0 0 0 0 9
Baylor Genetics 3 4 1 0 0 0 8
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 5 2 1 0 0 0 8
Laboratory of Genetics, Children's Clinical University Hospital Latvia 4 4 0 0 0 0 8
Department of Pathology and Laboratory Medicine, Sinai Health System 1 1 5 0 0 0 7
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 6 1 0 0 0 0 7
KardioGenetik, Herz- und Diabeteszentrum NRW 3 3 1 0 0 0 7
Neuberg Centre For Genomic Medicine, NCGM 3 0 4 0 0 0 7
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute 2 2 2 0 0 0 6
Athena Diagnostics 0 0 4 0 2 0 6
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 4 1 1 0 0 0 6
deCODE genetics, Amgen 3 3 0 0 0 0 6
Biotechnology Research Center, Pasteur Institute of Iran 3 2 0 0 0 0 5
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego 2 0 0 2 1 0 5
Dasa 5 0 0 0 0 0 5
Genetics and Molecular Pathology, SA Pathology 3 0 2 0 0 0 5
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 3 2 0 0 0 0 5
Molecular Genetics, Royal Melbourne Hospital 4 0 1 0 0 0 5
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust 5 0 0 0 0 0 5
Roden Lab, Vanderbilt University Medical Center 1 3 1 0 0 0 5
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 1 0 1 2 0 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 1 1 0 0 0 4
Clinical Genomics Laboratory, Washington University in St. Louis 2 1 1 0 0 0 4
Cohesion Phenomics 0 0 0 4 0 0 4
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 3 0 0 0 0 4
Medical Research Institute, Tokyo Medical and Dental University 0 4 0 0 0 0 4
Mendelics 2 0 1 0 1 0 4
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 2 0 0 0 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 2 0 0 0 3
GeneReviews 0 0 0 0 0 3 3
Gharavi Laboratory, Columbia University 3 0 0 0 0 0 3
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 1 2 0 0 0 3
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 1 1 0 0 0 3
Institute of Immunology and Genetics Kaiserslautern 0 3 0 0 0 0 3
Johns Hopkins Genomics, Johns Hopkins University 2 0 1 0 0 0 3
Kariminejad - Najmabadi Pathology & Genetics Center 3 0 0 0 0 0 3
Lildballe Lab, Aarhus University Hospital 0 3 0 0 0 0 3
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 2 1 0 0 0 3
Arcensus 0 2 0 0 0 0 2
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 2 0 0 0 0 0 2
Center for Human Genetics, University of Leuven 1 0 1 0 0 0 2
Center for Medical Genetics Ghent, University of Ghent 0 2 0 0 0 0 2
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 2 0 0 0 0 0 2
Department of Human Genetics, Hannover Medical School 2 0 0 0 0 0 2
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 0 2 0 0 0 0 2
Division of Human Genetics, Children's Hospital of Philadelphia 1 1 0 0 0 0 2
Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust, North Thames Genomic Laboratory Hub 2 0 0 0 0 0 2
GenomeConnect - Brain Gene Registry 0 0 0 0 0 2 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 1 1 0 0 0 2
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 1 0 0 1 0 0 2
Laan Lab, Human Genetics Research Group, University of Tartu 1 1 0 0 0 0 2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 2 0 0 2
Royal Brompton Clinical Genetics And Genomics Laboratory, NHS South East Genomic Laboratory Hub 1 1 0 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 1 1 0 0 0 2
Akbari laboratory, Tarbiat Modares University 0 1 0 0 0 0 1
Bioinformatics dept., Datar Cancer Genetics Limited, India 0 1 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 1 0 0 0 1
Cavalleri Lab, Royal College of Surgeons in Ireland 1 0 0 0 0 0 1
Center for Personalized Medicine, Children's Hospital Los Angeles 0 1 0 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 1 0 0 0 0 0 1
Community Genetics, University of British Columbia 0 0 0 0 0 1 1
Daryl Scott Lab, Baylor College of Medicine 1 0 0 0 0 0 1
Department of Molecular Genetics, Istishari Arab Hospital 0 1 0 0 0 0 1
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center 0 0 1 0 0 0 1
Department of Pediatrics, Graduate School of Medicine, Nagasaki University 1 0 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 0 0 0 0 1
Division of Laboratory Medicine and Clinical Genetics, Chiba University Hospital 1 0 0 0 0 0 1
Dubai Health Genomic Medicine Center, Dubai Health 0 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 0 1
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 1
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital 0 1 0 0 0 0 1
Genetics and Genomics Program, Sidra Medicine 0 1 0 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 1 0 0 0 1
Hadassah Hebrew University Medical Center 1 0 0 0 0 0 1
Health in Code S.L. 0 1 0 0 0 0 1
Imagene.me medical diagnostic laboratory, IMAGENE.ME SA 1 0 0 0 0 0 1
Institute of Human Genetics Munich, TUM University Hospital 1 0 0 0 0 0 1
Institute of Human Genetics, Cologne University 0 0 1 0 0 0 1
Institute of Human Genetics, Heidelberg University 0 1 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
Institute of Human Genetics, University of Wuerzburg 0 1 0 0 0 0 1
Institute of Rare Diseases, West China Hospital, Sichuan University 1 0 0 0 0 0 1
Intergen Genetics and Rare Diseases Diagnosis Center 1 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 0 1
Laboratory of Dr. Barbara Vona, University Medical Center Göttingen 0 1 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 1
MVZ Medizinische Genetik Mainz 1 0 0 0 0 0 1
Medical Molecular Genetics Department, National Research Center 0 1 0 0 0 0 1
Medical and Scientific Branch, Hong Kong Genome Institute 0 1 0 0 0 0 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 1 0 0 0 0 0 1
Molecular Genetics Laboratory, Motol Hospital 0 1 0 0 0 0 1
NHS Central & South Genomic Laboratory Hub 0 1 0 0 0 0 1
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 1 0 0 0 0 0 1
Palindrome, Gene Kavoshgaran Aria 1 0 0 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 1 0 0 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 1 0 0 0 1
Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences 1 0 0 0 0 0 1
Swiss DNAlysis 1 0 0 0 0 0 1
Translational Genomics Laboratory, University of Maryland School of Medicine 0 1 0 0 0 0 1
WangQJ Lab, Chinese People's Liberation Army General Hospital 1 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 0 0 0 0 0 1

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