ClinVar Miner

Variants in gene KCNE1

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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 other not provided total
19 15 185 111 58 1 1 36 333

Condition and significance breakdown #

Total conditions: 24
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor other not provided total
Long QT syndrome 12 4 98 49 10 0 0 0 165
not provided 3 10 43 29 42 0 1 11 123
Jervell and Lange-Nielsen syndrome 2 6 0 58 14 24 0 0 0 101
Long QT syndrome 5 3 4 54 18 23 1 0 0 101
Congenital long QT syndrome 0 1 28 31 16 1 0 25 100
Cardiovascular phenotype 2 2 34 31 4 0 0 0 73
not specified 0 1 22 19 10 0 0 0 47
Jervell and Lange-Nielsen syndrome 2; Long QT syndrome 5 1 1 36 2 1 0 0 0 41
Jervell and Lange-Nielsen syndrome 0 1 5 3 2 0 0 0 11
KCNE1-related condition 0 0 2 3 0 0 0 0 5
Cardiomyopathy 0 0 1 0 2 0 0 0 3
Inborn genetic diseases 0 0 3 0 0 0 0 0 3
Arrhythmogenic right ventricular cardiomyopathy 0 0 1 0 0 0 0 0 1
Arrhythmogenic right ventricular cardiomyopathy; Brugada syndrome; Sudden unexplained death 0 0 1 0 0 0 0 0 1
Cardiac arrhythmia 0 0 0 1 0 0 0 0 1
Hereditary hearing loss and deafness; Long QT syndrome 1 0 0 0 0 0 0 0 1
Hypertrophic cardiomyopathy 0 0 1 0 0 0 0 0 1
Jervell and Lange-Nielsen syndrome 1 0 1 0 0 0 0 0 0 1
Long QT syndrome 2/5, digenic 1 0 0 0 0 0 0 0 1
Long QT syndrome 5, acquired, susceptibility to 0 0 0 0 0 1 0 0 1
Noise induced hearing loss 0 0 0 0 1 0 0 0 1
Primary dilated cardiomyopathy 0 1 0 0 0 0 0 0 1
Rare genetic deafness 0 1 0 0 0 0 0 0 1
SUDDEN INFANT DEATH SYNDROME 0 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 51
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor other not provided total
Invitae 12 2 88 45 8 0 0 0 155
GeneDx 2 6 31 31 44 0 0 0 114
Illumina Laboratory Services, Illumina 0 0 60 37 26 0 0 0 103
Ambry Genetics 2 2 37 31 4 0 0 0 76
Fulgent Genetics, Fulgent Genetics 1 1 33 2 1 0 0 0 38
Cardiovascular Biomedical Research Unit, Royal Brompton & Harefield NHS Foundation Trust 0 0 0 0 0 0 0 35 35
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 2 17 7 4 1 0 0 31
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 4 4 2 0 0 0 10
CeGaT Center for Human Genetics Tuebingen 2 1 5 1 1 0 0 0 10
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1 3 2 3 0 0 0 9
AiLife Diagnostics, AiLife Diagnostics 1 1 6 0 0 0 0 0 8
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 0 4 1 2 0 0 0 7
Clinical Genetics, Academic Medical Center 1 0 0 1 5 0 0 0 7
CSER _CC_NCGL, University of Washington 0 1 6 0 0 0 0 0 7
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 2 4 1 0 0 0 7
PreventionGenetics, part of Exact Sciences 0 0 2 3 1 0 0 0 6
OMIM 5 0 0 0 0 1 0 0 5
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 0 1 3 0 0 0 0 5
Eurofins Ntd Llc (ga) 0 0 1 0 4 0 0 0 5
Mayo Clinic Laboratories, Mayo Clinic 0 1 4 0 0 0 0 0 5
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego 0 1 2 0 2 0 0 0 5
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 1 1 1 0 0 1 0 0 4
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 1 3 0 0 0 0 0 4
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 2 2 0 0 0 0 0 4
Revvity Omics, Revvity 0 0 3 0 0 0 0 0 3
National Institute on Deafness and Communication Disorders, National Institutes of Health 3 0 0 0 0 0 0 0 3
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 1 0 0 0 1 0 1 0 3
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 1 2 0 0 0 3
Blueprint Genetics 0 0 0 2 0 0 0 0 2
New York Genome Center 0 0 2 0 0 0 0 0 2
Baylor Genetics 0 0 1 0 0 0 0 0 1
Athena Diagnostics Inc 0 0 0 1 0 0 0 0 1
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 1 0 0 0 0 0 0 1
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute 0 0 1 0 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 1 0 0 0 0 0 0 1
Center for Human Genetics, University of Leuven 0 0 1 0 0 0 0 0 1
Medical Research Institute, Tokyo Medical and Dental University 0 1 0 0 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 0 0 1
Hereditary Hearing Loss Research Unit, University of Madras 1 0 0 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 1 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 0 1 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 0 0 1
Robert's Program, Boston Children's Hospital 0 0 1 0 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 0 0 1
3billion 0 1 0 0 0 0 0 0 1
Departamento de Patología, Instituto de Genética, Universidad Nacional de Colombia 0 1 0 0 0 0 0 0 1
Dept of Medical Biology, Uskudar University 0 1 0 0 0 0 0 0 1

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