ClinVar Miner

Variants in gene combination KCNQ1, KCNQ1OT1

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Minimum submission review status: Collection method:
Minimum conflict level:
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 not provided total
10 2 29 22 11 4 63

Condition and significance breakdown #

Total conditions: 17
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Arrhythmia 1 0 16 11 2 0 30
Long QT syndrome 4 1 7 8 6 0 25
not provided 4 1 3 4 4 1 16
Romano-Ward syndrome 0 0 2 7 2 0 11
not specified 0 0 3 4 4 0 10
Familial atrial fibrillation 0 0 1 4 2 0 7
Jervell and Lange-Nielsen syndrome 0 0 1 4 2 0 7
Jervell and Lange-Nielsen syndrome 1 1 0 4 0 2 0 7
Long QT syndrome 1 1 0 4 0 2 0 7
short QT syndrome 0 0 1 4 2 0 7
Atrial fibrillation, familial, 3 0 0 4 2 0 0 6
Short QT syndrome 2 0 0 2 1 3 0 6
Cardiovascular phenotype 2 0 1 1 1 0 5
Congenital long QT syndrome 0 1 0 0 0 1 2
Long QT syndrome, LQT1 subtype 0 0 0 0 0 2 2
Autosomal dominant KCNQ1-related disease 0 0 1 0 0 0 1
Cardiac arrhythmia 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Color 1 0 16 11 2 0 30
Invitae 2 1 7 5 4 0 19
GeneDx 4 0 2 6 3 0 15
Illumina Clinical Services Laboratory,Illumina 0 0 5 8 5 0 13
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 1 2 2 2 0 7
Ambry Genetics 2 0 1 1 1 0 5
Integrated Genetics/Laboratory Corporation of America 1 0 0 0 4 0 5
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 0 2 0 2
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 2 2
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust 0 0 0 0 0 2 2
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 1 1 0 0 0 2
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics, Cincinnati Children's Hospital Medical Center 0 0 0 0 1 0 1
Institute of Medical Genetics and Genomics,Sir Ganga Ram Hospital 1 0 0 0 0 0 1
PreventionGenetics,PreventionGenetics 0 0 0 0 1 0 1
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 1 0 0 0 1
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 1 0 0 0 0 0 1
Biotechnology Research Center,Pasteur Institute of Iran 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 1 0 0 0 1

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