ClinVar Miner

Variants in gene DSG2

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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 risk factor not provided total
43 61 616 309 82 1 4 960

Condition and significance breakdown #

Total conditions: 31
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Arrhythmogenic right ventricular cardiomyopathy, type 10 35 21 340 138 42 0 0 533
Cardiomyopathy 0 2 294 169 44 0 0 498
not provided 13 24 97 49 27 0 1 201
not specified 0 1 68 98 45 0 3 186
Cardiovascular phenotype 1 2 27 32 18 0 0 80
Arrhythmogenic right ventricular cardiomyopathy 2 13 46 10 3 0 0 69
Dilated Cardiomyopathy, Dominant 0 0 25 1 0 0 0 26
none provided 0 0 0 3 6 0 0 9
Primary dilated cardiomyopathy 1 1 4 1 0 0 0 7
Dilated cardiomyopathy 1BB 1 1 2 0 0 1 0 5
Primary familial hypertrophic cardiomyopathy 0 0 5 0 0 0 0 5
Arrhythmogenic right ventricular dysplasia, familial 1 0 0 1 1 1 0 0 3
Arrhythmogenic right ventricular dysplasia/cardiomyopathy, type 10 1 2 0 0 0 0 0 3
Cardiac arrest 0 0 3 0 0 0 0 3
Hypertrophic cardiomyopathy 0 0 2 1 0 0 0 3
Arrhythmogenic right ventricular cardiomyopathy, type 10; Dilated cardiomyopathy 1BB 1 0 1 0 0 0 0 2
Long QT syndrome 0 0 1 1 0 0 0 2
Primary familial dilated cardiomyopathy 0 0 2 0 0 0 0 2
Restrictive cardiomyopathy; Cardiomyopathy 0 0 0 0 2 0 0 2
Arrhythmogenic right ventricular cardiomyopathy; Cardiomyopathy 0 0 0 0 1 0 0 1
Cardiac arrhythmia 0 0 0 0 1 0 0 1
Cardiomyopathy, left ventricular noncompaction 0 0 1 0 0 0 0 1
Cardiomyopathy; Systolic heart failure 0 0 0 0 1 0 0 1
Catecholaminergic polymorphic ventricular tachycardia type 1 0 0 1 0 0 0 0 1
Conduction disorder of the heart 0 0 1 0 0 0 0 1
Dilated cardiomyopathy 1A 0 0 1 0 0 0 0 1
Familial isolated dilated cardiomyopathy 0 0 1 0 0 0 0 1
Intellectual disability 0 1 0 0 0 0 0 1
Primary dilated cardiomyopathy; Cardiomyopathy 0 0 0 0 1 0 0 1
Sudden cardiac death 0 1 0 0 0 0 0 1
Ventricular fibrillation 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 42
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Color Health, Inc 0 0 281 162 40 0 0 483
Invitae 27 12 266 132 32 0 0 469
GeneDx 13 15 71 66 50 0 0 215
Illumina Clinical Services Laboratory,Illumina 0 0 117 35 11 0 0 163
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 2 5 51 37 20 0 3 118
Ambry Genetics 1 2 27 32 18 0 0 80
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 1 24 9 12 0 0 46
Integrated Genetics/Laboratory Corporation of America 0 0 16 13 14 0 0 43
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 0 14 7 12 0 0 33
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 3 10 6 10 0 0 29
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 1 8 6 8 0 0 23
CeGaT Praxis fuer Humangenetik Tuebingen 0 4 13 5 0 0 0 22
Blueprint Genetics 1 3 17 0 0 0 0 21
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego 0 2 4 3 6 0 0 15
PreventionGenetics, PreventionGenetics 0 0 0 2 12 0 0 14
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 4 3 4 0 0 11
OMIM 9 0 0 0 0 1 0 9
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 1 7 1 0 0 0 9
CSER _CC_NCGL, University of Washington 0 1 6 1 0 0 0 8
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 2 5 0 0 0 0 0 7
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 3 4 0 0 0 0 7
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 4 1 1 0 0 6
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 2 1 0 0 0 4
Mendelics 0 0 3 0 0 0 0 3
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 2 0 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 1 0 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 1 1 0 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 2 0 0 0 0 0 2
Klaassen Lab,Charite University Medicine Berlin 0 1 1 0 0 0 0 2
Baylor Genetics 0 0 1 0 0 0 0 1
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 0 1 0 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 0 0 1
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 0 0 1 0 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 0 1 0 0 0 0 1
Centre of Medical Genetics, University of Antwerp 0 1 0 0 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 0 1 0 0 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 1 0 0 0 1
Donald Williams Parsons Laboratory,Baylor College of Medicine 1 0 0 0 0 0 0 1
Phosphorus, Inc. 0 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 1 1
Genetics and Genomics Program,Sidra Medicine 0 0 1 0 0 0 0 1
Division of Medical Genetics, University of Washington 0 1 0 0 0 0 0 1

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