ClinVar Miner

Variants in gene KCNE1

Minimum submission review status: Collection method:
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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 other not provided total
12 13 111 69 36 1 1 36 212

Condition and significance breakdown #

Total conditions: 23
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor other not provided total
Jervell and Lange-Nielsen syndrome 2 6 0 55 14 24 0 0 0 99
Long QT syndrome 5 3 2 53 18 23 1 0 0 98
Romano-Ward syndrome 0 0 28 33 16 0 0 0 77
Long QT syndrome 1 4 39 12 8 1 0 0 61
not specified 0 1 22 19 7 0 0 0 48
not provided 4 6 15 13 3 0 1 11 47
Congenital long QT syndrome 0 1 0 0 0 1 0 25 26
Cardiovascular phenotype 1 2 9 7 3 0 0 0 22
Jervell and Lange-Nielsen syndrome 0 1 5 3 2 0 0 0 11
Cardiomyopathy 0 0 1 0 2 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
Dilated cardiomyopathy 0 1 0 0 0 0 0 0 1
Hearing loss, noise-induced, susceptibility to 0 0 0 0 1 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
Jervell and Lange-Nielsen syndrome 2; Long QT syndrome 5 0 0 1 0 0 0 0 0 1
Long QT syndrome 2/5 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
Prolonged QT interval; Syncope; Hypertensive disorder 0 0 1 0 0 0 0 0 1
Rare genetic deafness 0 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 32
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor other not provided total
Illumina Clinical Services Laboratory,Illumina 0 0 60 37 26 0 0 0 103
Invitae 1 3 32 17 6 0 0 0 59
GeneDx 3 5 11 15 5 0 0 0 39
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust 0 0 0 0 0 0 0 35 35
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 2 16 7 4 1 0 0 30
Ambry Genetics 1 2 9 7 3 0 0 0 22
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 0 4 1 2 0 0 0 7
CSER _CC_NCGL, University of Washington 0 1 6 0 0 0 0 0 7
Integrated Genetics/Laboratory Corporation of America 0 0 4 1 1 0 0 0 6
CeGaT Praxis fuer Humangenetik Tuebingen 2 0 2 2 0 0 0 0 6
OMIM 5 0 0 0 0 1 0 0 5
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 1 0 4 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
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 1 3 0 0 0 0 0 4
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 2 0 0 0 3
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 1 1 0 0 0 1 0 0 3
National Institute on Deafness and Communication Disorders,National Institutes of Health 3 0 0 0 0 0 0 0 3
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 1 2 0 0 0 0 0 3
Blueprint Genetics 0 0 0 1 0 1 0 0 2
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 1 0 0 0 0 0 1 0 2
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
PreventionGenetics,PreventionGenetics 0 0 0 0 1 0 0 0 1
Fulgent Genetics,Fulgent Genetics 0 0 1 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
SIB Swiss Institute of Bioinformatics 0 0 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 0 1 1

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