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
11 12 72 60 24 1 1 36 174

Condition and significance breakdown #

Total conditions: 17
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor other not provided total
Long QT syndrome 1 3 50 38 21 1 0 0 108
Jervell and Lange-Nielsen syndrome 0 2 28 33 16 0 0 0 79
Romano-Ward syndrome 0 1 28 33 16 0 0 0 78
not specified 0 1 20 19 7 0 0 0 46
not provided 3 6 14 1 2 0 1 11 32
Congenital long QT syndrome 0 0 0 0 0 0 0 25 25
Cardiovascular phenotype 1 2 9 7 3 0 0 0 22
Long QT syndrome 5 3 2 2 0 0 1 0 0 7
Jervell and Lange-Nielsen syndrome 2 6 0 0 0 0 0 0 0 6
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
Hearing loss, noise-induced, susceptibility to 0 0 0 0 1 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

Submitter and significance breakdown #

Total submitters: 28
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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 28 33 16 0 0 0 77
GeneDx 3 5 11 14 3 0 0 0 36
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust 0 0 0 0 0 0 0 35 35
Invitae 1 2 21 5 5 0 0 0 34
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 2 16 7 4 0 0 0 29
Ambry Genetics 1 2 9 7 3 0 0 0 22
Biesecker Lab/Human Development Section,National Institutes of Health 0 0 4 1 2 0 0 0 7
CSER_CC_NCGL; University of Washington Medical Center 0 1 6 0 0 0 0 0 7
OMIM 5 0 0 0 0 1 0 0 5
Integrated Genetics/Laboratory Corporation of America 0 0 3 1 1 0 0 0 5
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 1 0 4 0 0 0 5
Stanford Center for Inherited Cardiovascular Disease,Stanford University 0 1 3 0 0 0 0 0 4
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
Blueprint Genetics, 0 0 0 1 0 1 0 0 2
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 1 1 0 0 0 0 0 2
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 1 0 0 0 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 0 0 1 0 0 0 1
PreventionGenetics 0 0 0 0 1 0 0 0 1
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
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 0 0 0 0 0 1 0 1
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 1 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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