ClinVar Miner

Variants in gene DSC2

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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 total
16 22 250 125 30 380

Condition and significance breakdown #

Total conditions: 21
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Arrhythmogenic right ventricular cardiomyopathy, type 11 11 4 90 55 19 169
not specified 0 0 61 66 23 132
Cardiomyopathy 0 2 38 28 17 80
not provided 6 11 53 5 2 76
Arrhythmogenic right ventricular cardiomyopathy 0 7 51 13 3 72
Cardiovascular phenotype 1 1 37 14 8 61
Primary familial hypertrophic cardiomyopathy 0 0 2 1 1 4
Arrhythmogenic right ventricular dysplasia/cardiomyopathy 0 0 1 1 0 2
Inborn genetic diseases 0 0 2 0 0 2
Primary dilated cardiomyopathy 0 0 1 1 0 2
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11, WITH OR WITHOUT MILD PALMOPLANTAR KERATODERMA 1 0 0 0 0 1
Arrhythmogenic right ventricular cardiomyopathy, type 9 0 0 1 0 0 1
Arrhythmogenic right ventricular dysplasia, familial, 11, with mild palmoplantar keratoderma and woolly hair 1 0 0 0 0 1
Cardiac arrest 0 0 0 1 0 1
Cardiomyopathy, arrhythmogenic right ventricular dysplasia 0 0 0 0 1 1
Dilated cardiomyopathy 1S 0 0 0 1 0 1
Familial dilated cardiomyopathy 0 0 1 0 0 1
Hypertrophic cardiomyopathy 0 0 1 0 0 1
Left ventricular hypertrophy 0 0 1 0 0 1
Long QT syndrome 0 0 1 0 0 1
Pigmented nodular adrenocortical disease, primary, 2 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 34
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 7 2 83 46 15 153
GeneDx 6 10 46 44 17 123
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 4 49 23 12 88
Color 0 0 26 24 14 64
Ambry Genetics 1 1 39 14 8 63
Illumina Clinical Services Laboratory,Illumina 0 0 40 11 0 51
Integrated Genetics/Laboratory Corporation of America 0 1 10 5 8 24
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 1 11 4 6 22
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 1 0 4 8 7 20
Biesecker Lab/Human Development Section,National Institutes of Health 0 0 9 5 4 18
Genome Diagnostics Laboratory,University Medical Center Utrecht 2 0 1 7 5 15
Blueprint Genetics, 0 2 7 5 1 15
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 2 2 5 5 14
Stanford Center for Inherited Cardiovascular Disease,Stanford University 0 0 11 0 0 11
CSER_CC_NCGL; University of Washington Medical Center 0 1 5 2 0 8
PreventionGenetics 0 0 0 3 4 7
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 5 0 1 6
OMIM 4 0 1 0 0 5
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 3 1 1 5
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 1 2 2 0 5
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 2 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 1 1 0 2
Fulgent Genetics 0 0 2 0 0 2
Erich and Hanna Klessmann Institute for Cardiovascular Research and Development,Heart and Diabetes Center North Rhine-Westphalia 0 0 1 1 0 2
Phosphorus, Inc. 0 0 2 0 0 2
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 0 1 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 0 1 0 0 1
Center for Human Genetics,University of Leuven 0 0 1 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 1 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 1 0 0 1
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 0 0 1 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 1 0 0 1
Department of Medical Bioinformatics,Sinopath Diagnosis 0 1 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 0 1 0 0 1

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