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
8 2 10 15 9 4 38

Condition and significance breakdown #

Total conditions: 14
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Long QT syndrome 2 1 6 10 5 0 20
Romano-Ward syndrome 0 1 2 7 2 0 12
Familial atrial fibrillation 0 0 2 7 2 0 11
Jervell and Lange-Nielsen syndrome 0 0 2 7 2 0 11
not provided 4 1 3 0 3 1 11
short QT syndrome 0 0 2 7 2 0 11
not specified 0 0 2 4 4 0 9
Arrhythmia 0 0 1 4 2 0 7
Cardiovascular phenotype 2 0 1 1 1 0 5
Long QT syndrome, LQT1 subtype 0 0 0 0 0 2 2
Cardiac arrhythmia 0 0 0 0 1 0 1
Congenital long QT syndrome 0 0 0 0 0 1 1
Jervell and Lange-Nielsen syndrome 1 1 0 0 0 0 0 1
Long QT syndrome 1 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 16
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GeneDx 4 0 2 3 2 0 11
Invitae 0 1 4 3 3 0 11
Illumina Clinical Services Laboratory,Illumina 0 0 2 7 2 0 11
Color 0 0 1 4 2 0 7
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 1 1 2 2 0 6
Ambry Genetics 2 0 1 1 1 0 5
Integrated Genetics/Laboratory Corporation of America 1 0 0 0 3 0 4
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
Institute of Medical Genetics and Genomics,Sir Ganga Ram Hospital 1 0 0 0 0 0 1
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
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 1 0 1

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