ClinVar Miner

Variants in gene ANK2

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
4 14 502 318 114 21 809

Condition and significance breakdown #

Total conditions: 25
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Long QT syndrome 0 4 285 155 63 1 465
not specified 0 0 34 139 70 0 236
not provided 0 6 189 20 21 4 232
Cardiovascular phenotype 0 0 71 91 32 0 194
Cardiac arrhythmia, ankyrin B-related 3 2 17 12 13 0 42
Cardiac arrhythmia 0 1 2 4 4 0 11
Congenital long QT syndrome 0 0 1 0 0 9 10
Arrhythmia 0 0 0 0 0 5 5
Cardiac arrest 0 0 4 0 0 0 4
Autism spectrum disorder 0 0 3 0 0 0 3
Wolff-Parkinson-White pattern 0 0 3 0 0 0 3
Brugada syndrome 0 0 2 0 0 0 2
Catecholaminergic polymorphic ventricular tachycardia type 1 0 1 1 0 0 0 2
Hypertrophic cardiomyopathy 0 0 2 0 0 0 2
Inborn genetic diseases 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
Arrhythmogenic right ventricular 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
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
Primary dilated cardiomyopathy 0 0 1 0 0 0 1
Sudden cardiac death 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 42
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 0 0 196 124 63 0 383
GeneDx 0 3 150 135 52 0 340
Ambry Genetics 0 0 72 91 32 0 195
Illumina Clinical Services Laboratory,Illumina 0 1 89 30 0 0 120
Integrated Genetics/Laboratory Corporation of America 0 1 18 10 30 0 59
Biesecker Lab/Human Development Section,National Institutes of Health 0 0 21 17 13 0 51
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
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 5 3 9 0 17
PreventionGenetics 0 0 0 0 13 0 13
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 7 2 0 0 9
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
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 0 4 0 0 0 4
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
Geschwind lab,University of California Los Angeles 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
Division of Human Genetics,Children's Hospital of Philadelphia 0 0 2 0 0 0 2
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
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, Inc. 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
CeGaT Praxis fuer Humangenetik Tuebingen 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
GenomeConnect, ClinGen 0 0 0 0 0 1 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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.