ClinVar Miner

Variants in gene ANK2

Minimum submission review status: Collection method:
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Gene type:
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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
8 18 891 509 168 23 1395

Condition and significance breakdown #

Total conditions: 40
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Long QT syndrome 0 4 578 244 79 1 900
not provided 1 8 214 130 52 4 398
Cardiac arrhythmia, ankyrin B-related 3 2 182 57 37 2 270
not specified 0 0 41 159 85 0 266
Cardiovascular phenotype 0 0 61 100 33 0 194
none provided 0 0 7 9 16 0 32
Cardiac arrhythmia 0 1 2 4 4 0 11
Congenital long QT syndrome 0 0 1 0 0 9 10
Inborn genetic diseases 3 2 5 0 0 0 10
Intellectual disability 0 0 2 7 0 0 9
Cardiomyopathy 0 0 2 4 2 0 8
Arrhythmia 0 0 0 0 0 5 5
Conduction disorder of the heart 0 0 5 0 0 0 5
Hypertrophic cardiomyopathy 0 0 4 1 0 0 5
Cardiac arrest 0 0 4 0 0 0 4
Primary dilated cardiomyopathy 0 0 2 1 1 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
Congestive heart failure 0 0 0 2 0 0 2
Long QT syndrome 1 0 0 2 0 0 0 2
Long QT syndrome 4 2 0 0 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
Autistic behavior 0 0 1 0 0 0 1
Autistic disorder of childhood onset 0 0 1 0 0 0 1
Cardiomyopathy; Hypertrophic cardiomyopathy 0 0 1 0 0 0 1
Channelopathy 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: 51
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 0 0 565 283 82 0 930
GeneDx 0 4 150 166 82 0 402
Illumina Clinical Services Laboratory,Illumina 0 1 165 55 30 0 251
Ambry Genetics 3 2 65 100 33 0 203
Integrated Genetics/Laboratory Corporation of America 0 1 22 28 43 0 94
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 14 14 28 0 56
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 0 21 17 13 0 51
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 34 9 0 0 44
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
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 0 14 5 2 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
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 7 2 0 0 9
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 2 7 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
Baylor Genetics 0 0 5 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
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 4 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
GenomeConnect, ClinGen 0 0 0 0 0 3 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
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 2 0 0 2
New York Genome Center 0 0 2 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
Clinical Genetics laboratory, University of Goettingen 0 0 1 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,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
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 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
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 0 0 0 1
Dept of Molecular Biology and Genetics,Bogazici University 0 0 0 1 0 0 1

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