ClinVar Miner

Variants in gene ANK2

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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 not provided total
4 16 562 424 157 22 1001

Condition and significance breakdown #

Total conditions: 36
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 0 8 212 212 116 4 521
Long QT syndrome 0 4 345 74 4 1 427
not specified 0 0 35 146 78 0 250
Cardiovascular phenotype 0 0 65 96 33 0 194
Cardiac arrhythmia, ankyrin B-related 3 2 17 14 14 1 45
Cardiac arrhythmia 0 1 2 4 4 0 11
Congenital long QT syndrome 0 0 1 0 0 9 10
Cardiomyopathy 0 0 2 4 2 0 8
Arrhythmia 0 0 0 0 0 5 5
Hypertrophic cardiomyopathy 0 0 4 1 0 0 5
Cardiac arrest 0 0 4 0 0 0 4
Brugada syndrome 0 0 2 2 0 0 3
Wolff-Parkinson-White pattern 0 0 3 0 0 0 3
Catecholaminergic polymorphic ventricular tachycardia type 1 0 1 1 0 0 0 2
Conduction disorder of the heart 0 0 2 0 0 0 2
Congestive heart failure 0 0 0 2 0 0 2
Dilated cardiomyopathy 0 0 0 1 1 0 2
Inborn genetic diseases 0 0 2 0 0 0 2
Long QT syndrome 4 2 0 0 0 0 0 2
Primary dilated cardiomyopathy 0 0 2 0 0 0 2
See cases 0 0 1 1 0 0 2
Torsades de pointes 0 0 0 0 0 2 2
Ventricular tachycardia 0 0 1 1 0 0 2
Arrhythmogenic right ventricular cardiomyopathy 0 0 1 0 0 0 1
Atrial fibrillation; Cardiomyopathy 0 0 0 0 1 0 1
Autism spectrum disorder 0 0 1 0 0 0 1
Cardiomyopathy; Hypertrophic cardiomyopathy 0 0 1 0 0 0 1
Channelopathies 0 0 1 0 0 0 1
Death in infancy 1 0 0 0 0 0 1
Familial dilated cardiomyopathy and peripheral neuropathy 0 0 0 0 1 0 1
Long QT syndrome 2 0 0 1 0 0 0 1
Oligosynaptic infertility; Fibular hypoplasia and complex brachydactyly 0 0 0 1 0 0 1
Sudden cardiac arrest 0 0 1 0 0 0 1
Sudden cardiac death 0 0 1 0 0 0 1
Supraventricular tachycardia 0 0 1 0 0 0 1
Ventricular fibrillation 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 45
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 0 0 256 210 82 0 548
GeneDx 0 4 150 166 82 0 402
Ambry Genetics 0 0 66 96 33 0 195
Illumina Clinical Services Laboratory,Illumina 0 1 89 30 0 0 120
Integrated Genetics/Laboratory Corporation of America 0 1 15 13 30 0 59
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 0 21 17 13 0 51
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 33 9 0 0 43
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 8 7 22 0 37
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego 0 0 8 10 6 0 24
Blueprint Genetics 0 1 18 2 0 0 21
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust 0 0 0 0 0 20 20
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 0 19 1 0 0 20
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 2 10 6 0 18
PreventionGenetics,PreventionGenetics 0 0 0 0 13 0 13
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 0 9 2 0 0 11
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 7 2 0 0 9
Fulgent Genetics,Fulgent Genetics 0 0 7 0 0 0 7
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 1 6 0 7
OMIM 4 0 1 0 0 0 5
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 1 3 0 0 4
Medical Research Institute,Tokyo Medical and Dental University 0 4 0 0 0 0 4
Mendelics 0 0 0 2 1 0 3
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 3 0 0 0 0 3
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 3 0 0 0 3
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 2 0 0 0 2
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 1 1 0 0 0 2
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 0 0 1 1 0 0 2
Division of Human Genetics,Children's Hospital of Philadelphia 0 0 2 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 1 0 0 0 2
Center for Human Genetics,University of Leuven 0 0 2 0 0 0 2
Phosphorus, Inc. 0 0 1 0 1 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 2 0 0 2
Institute of Human Genetics,University of Goettingen 0 0 1 0 0 0 1
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 1 0 0 0 1
ARUP Laboratories, Cytogenetics and Genomic Microarray,ARUP Laboratories 0 0 1 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 1 0 0 0 1
Strand Center for Genomics and Personalized Medicine,Strand Life Sciences Pvt Ltd 0 0 1 0 0 0 1
ISCA site 4 0 0 0 1 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 0 1 0 0 0 1
Forensic Genetics Laboratory,Harris County Institute of Forensic Sciences 1 0 0 0 0 0 1
Geschwind lab,University of California Los Angeles 0 0 1 0 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 0 1 0 0 0 1
Dept of Molecular Biology and Genetics,Bogazici University 0 0 0 1 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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