ClinVar Miner

Variants in gene DSC2

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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
23 31 515 270 56 1 782

Condition and significance breakdown #

Total conditions: 24
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Arrhythmogenic right ventricular cardiomyopathy, type 11 18 10 290 109 24 0 421
Cardiomyopathy 0 2 247 149 22 0 408
not provided 6 13 67 45 18 1 148
not specified 0 0 67 76 30 0 145
Cardiovascular phenotype 1 1 32 19 8 0 61
Arrhythmogenic right ventricular cardiomyopathy 0 7 24 4 3 0 37
none provided 0 0 3 0 3 0 6
Hypertrophic cardiomyopathy 0 0 1 4 0 0 5
Primary dilated cardiomyopathy 0 0 3 1 0 0 4
Primary familial hypertrophic cardiomyopathy 0 0 2 1 1 0 4
Familial isolated arrhythmogenic right ventricular dysplasia 0 0 1 1 1 0 3
Inborn genetic diseases 0 0 3 0 0 0 3
Arrhythmogenic right ventricular dysplasia, familial 1 0 1 1 0 0 0 2
Dilated cardiomyopathy 1A 0 1 1 0 0 0 2
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11, WITH OR WITHOUT MILD PALMOPLANTAR KERATODERMA 1 0 0 0 0 0 1
Aborted sudden cardiac death 0 0 1 0 0 0 1
Arrhythmogenic right ventricular dysplasia 9 0 0 1 0 0 0 1
Arrhythmogenic right ventricular dysplasia, familial, 11, with mild palmoplantar keratoderma and woolly hair 1 0 0 0 0 0 1
Cardiac arrest 0 0 0 1 0 0 1
Dilated cardiomyopathy 1S 0 0 0 1 0 0 1
Left ventricular hypertrophy 0 0 1 0 0 0 1
Long QT syndrome 0 0 1 0 0 0 1
Pigmented nodular adrenocortical disease, primary, 2 0 0 1 0 0 0 1
Primary familial dilated cardiomyopathy 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 44
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Color Health, Inc 0 0 236 146 17 0 399
Invitae 15 7 220 108 16 0 365
GeneDx 6 11 46 58 31 0 152
Illumina Clinical Services Laboratory,Illumina 0 0 83 12 8 0 103
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 3 48 25 13 0 89
Ambry Genetics 1 1 35 19 8 0 64
Integrated Genetics/Laboratory Corporation of America 0 1 14 13 17 0 45
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 1 14 5 12 0 32
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 17 10 0 0 28
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 1 0 4 8 7 0 20
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 0 9 5 4 0 18
Blueprint Genetics 0 2 9 5 1 0 17
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 3 5 3 6 0 17
Genome Diagnostics Laboratory,University Medical Center Utrecht 2 0 1 7 5 0 15
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 2 2 5 5 0 14
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 0 11 0 0 0 11
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 5 2 3 0 10
CSER _CC_NCGL, University of Washington 0 1 5 2 0 0 8
PreventionGenetics, PreventionGenetics 0 0 0 3 4 0 7
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 5 0 1 0 6
OMIM 4 0 1 0 0 0 5
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 3 1 1 0 5
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 1 4 0 0 0 5
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego 0 0 1 4 0 0 5
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 3 1 0 0 4
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 2 0 0 0 2
Mendelics 0 0 1 0 1 0 2
Fulgent Genetics,Fulgent Genetics 0 0 2 0 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 0 2
Phosphorus, Inc. 0 0 2 0 0 0 2
Baylor Genetics 0 0 1 0 0 0 1
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 0 0 1 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Center for Human Genetics,University of Leuven 0 0 1 0 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 1 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 0 1 0 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 1 0 0 0 1
Department of Medical Bioinformatics,Sinopath Diagnosis 0 1 0 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 0 1 0 0 0 1
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 0 1 0 0 0 0 1
Klaassen Lab,Charite University Medicine Berlin 0 1 0 0 0 0 1
Genetics and Genomics Program,Sidra Medicine 0 0 1 0 0 0 1

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