ClinVar Miner

Variants in gene DSC2

See also:
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 total
17 22 273 168 46 452

Condition and significance breakdown #

Total conditions: 22
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 6 11 63 80 31 178
Arrhythmogenic right ventricular cardiomyopathy, type 11 12 4 118 24 9 161
not specified 0 0 61 71 24 137
Cardiomyopathy 0 2 38 28 17 80
Arrhythmogenic right ventricular cardiomyopathy 0 7 51 13 3 72
Cardiovascular phenotype 1 1 37 14 8 61
Hypertrophic cardiomyopathy 0 0 1 4 0 5
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 0 0 1 0 0 1
Dilated cardiomyopathy 1S 0 0 0 1 0 1
Familial dilated 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: 38
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 9 2 108 75 16 210
GeneDx 6 10 46 58 31 151
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 3 50 22 13 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 7 8 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/Clinical Genomics Section,National Institutes of Health 0 0 9 5 4 18
Blueprint Genetics 0 2 9 5 1 17
Genome Diagnostics Laboratory,University Medical Center Utrecht 2 0 1 7 5 15
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 12 3 0 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 0 1 5 2 0 8
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 1 3 2 2 8
PreventionGenetics,PreventionGenetics 0 0 0 3 4 7
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 2 2 2 6
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
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego 0 0 1 4 0 5
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 2 0 0 2
Mendelics 0 0 1 0 1 2
Fulgent Genetics,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
Klaassen Lab,Charite University Medicine Berlin 0 1 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.