ClinVar Miner

Variants in gene DSG2

Minimum submission review status: Collection method:
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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 risk factor not provided total
34 44 326 199 73 1 4 569

Condition and significance breakdown #

Total conditions: 26
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
not provided 13 20 93 88 54 0 1 250
not specified 0 1 61 94 43 0 3 177
Arrhythmogenic right ventricular cardiomyopathy, type 10 25 9 114 19 1 0 0 164
Arrhythmogenic right ventricular cardiomyopathy 2 13 99 27 3 0 0 138
Cardiomyopathy 0 1 49 31 32 0 0 106
Dilated Cardiomyopathy, Dominant 0 0 78 21 0 0 0 99
Cardiovascular phenotype 1 2 30 29 18 0 0 80
Primary familial hypertrophic cardiomyopathy 0 0 5 0 0 0 0 5
Dilated cardiomyopathy 1BB 1 1 1 0 0 1 0 4
Cardiac arrest 0 0 3 0 0 0 0 3
Dilated cardiomyopathy 0 0 2 1 0 0 0 3
Hypertrophic cardiomyopathy 1 0 1 1 0 0 0 3
Primary dilated cardiomyopathy 1 1 1 0 0 0 0 3
Arrhythmogenic right ventricular cardiomyopathy, type 10; Dilated cardiomyopathy 1BB 1 0 1 0 0 0 0 2
Familial dilated cardiomyopathy 0 0 2 0 0 0 0 2
Long QT syndrome 0 0 1 1 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
Arrhythmogenic right ventricular dysplasia, familial 1 0 0 0 1 0 0 0 1
Cardiac arrhythmia 0 0 0 0 1 0 0 1
Cardiomyopathy; Dilated cardiomyopathy 0 0 0 0 1 0 0 1
Cardiomyopathy; Heart failure, systolic 0 0 0 0 1 0 0 1
Catecholaminergic polymorphic ventricular tachycardia type 1 0 0 1 0 0 0 0 1
Familial isolated dilated cardiomyopathy 0 0 1 0 0 0 0 1
Left ventricular noncompaction cardiomyopathy 0 0 1 0 0 0 0 1
Ventricular fibrillation 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 35
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 16 6 113 97 32 0 0 264
GeneDx 13 15 71 66 50 0 0 215
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 2 6 49 37 20 0 3 117
Illumina Clinical Services Laboratory,Illumina 0 0 78 22 0 0 0 100
Color 0 0 32 23 31 0 0 86
Ambry Genetics 1 2 30 29 18 0 0 80
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 0 14 7 12 0 0 33
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 0 19 7 5 0 0 31
Integrated Genetics/Laboratory Corporation of America 0 0 11 7 8 0 0 25
Blueprint Genetics 1 3 17 0 0 0 0 21
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1 8 3 7 0 0 19
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 3 7 3 5 0 0 18
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
CeGaT Praxis fuer Humangenetik Tuebingen 0 2 7 4 0 0 0 13
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
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 4 1 1 0 0 6
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 1 3 0 0 0 0 0 4
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
Klaassen Lab,Charite University Medicine Berlin 0 1 1 0 0 0 0 2
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 0 1 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
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
Centre for Mendelian Genomics,University Medical Centre Ljubljana 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

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