ClinVar Miner

Variants in gene DSG2

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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
32 38 304 168 51 1 4 489

Condition and significance breakdown #

Total conditions: 21
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Arrhythmogenic right ventricular cardiomyopathy, type 10 19 8 84 53 30 0 0 192
not specified 0 1 61 92 42 0 3 174
not provided 13 17 89 11 6 0 1 132
Arrhythmogenic right ventricular cardiomyopathy 1 10 96 27 3 0 0 131
Cardiomyopathy 1 0 48 30 32 0 0 105
Dilated Cardiomyopathy, Dominant 0 0 78 21 0 0 0 99
Cardiovascular phenotype 1 3 30 28 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
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
Hypertrophic cardiomyopathy 1 0 0 1 0 0 0 2
Arrhythmogenic right ventricular dysplasia, familial 1 0 0 0 1 0 0 0 1
Cardiac arrhythmia 0 0 0 0 1 0 0 1
Catecholaminergic polymorphic ventricular tachycardia type 1 0 0 1 0 0 0 0 1
Dilated cardiomyopathy 0 0 1 0 0 0 0 1
Familial dilated cardiomyopathy 0 0 1 0 0 0 0 1
Familial isolated dilated cardiomyopathy 0 0 1 0 0 0 0 1
Long QT syndrome 0 0 1 0 0 0 0 1
Ventricular fibrillation 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 30
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
GeneDx 14 14 71 62 28 0 0 188
Invitae 11 5 83 53 30 0 0 182
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 7 49 36 20 0 3 116
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 3 30 28 18 0 0 80
Biesecker Lab/Human Development 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 13 5 7 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 6 0 0 18
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 Medical Center 0 1 6 1 0 0 0 8
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 1 4 1 1 0 0 7
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 0 0 2 1 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 1 1 0 0 0 0 0 2
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 0 1 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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