ClinVar Miner

Variants in gene DSC2

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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 not provided total
86 70 1266 737 117 20 1997

Condition and significance breakdown #

Total conditions: 38
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Arrhythmogenic right ventricular dysplasia 11 66 35 741 449 35 0 1283
Cardiomyopathy 0 2 491 273 25 0 775
Cardiovascular phenotype 26 8 293 231 31 0 584
Familial isolated arrhythmogenic right ventricular dysplasia 2 1 408 154 10 0 572
not provided 11 35 218 109 50 1 402
not specified 0 0 91 106 47 0 208
Arrhythmogenic right ventricular cardiomyopathy 2 7 17 2 3 0 30
DSC2-related disorder 0 3 8 17 1 0 29
Primary dilated cardiomyopathy 0 0 5 1 0 0 6
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 6 6
Hypertrophic cardiomyopathy 0 0 1 4 0 0 5
Ovarian serous cystadenocarcinoma 0 0 0 0 0 4 4
Primary familial hypertrophic cardiomyopathy 0 0 2 1 1 0 4
Long QT syndrome 0 0 3 0 0 0 3
Arrhythmogenic right ventricular dysplasia 1 0 1 1 0 0 0 2
Cardiac arrhythmia 0 0 2 0 0 0 2
Dilated cardiomyopathy 1A 0 1 1 0 0 0 2
Gastric cancer 0 0 0 0 0 2 2
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11, WITH OR WITHOUT MILD PALMOPLANTAR KERATODERMA 1 0 0 0 0 0 1
Acute myeloid leukemia 0 0 0 0 0 1 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
Cervical cancer 0 0 0 0 0 1 1
Cholangiocarcinoma 0 0 0 0 0 1 1
Clear cell carcinoma of kidney 0 0 0 0 0 1 1
Colon adenocarcinoma 0 0 0 0 0 1 1
Dilated cardiomyopathy 1S 0 0 0 1 0 0 1
Familial cancer of breast 0 0 0 0 0 1 1
Hepatocellular carcinoma 0 0 0 0 0 1 1
Left ventricular hypertrophy 0 0 1 0 0 0 1
Lung cancer 0 0 0 0 0 1 1
Malignant tumor of esophagus 0 0 0 0 0 1 1
Primary familial dilated cardiomyopathy 0 0 1 0 0 0 1
See cases 0 0 1 0 0 0 1
Squamous cell carcinoma of the head and neck 0 0 0 0 0 1 1
Sudden unexplained death 0 0 1 0 0 0 1
Uterine corpus endometrial carcinoma 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 87
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 62 18 668 437 31 0 1216
Color Diagnostics, LLC DBA Color Health 0 0 476 270 17 0 763
Ambry Genetics 25 8 287 231 31 0 582
All of Us Research Program, National Institutes of Health 0 0 406 153 8 0 567
GeneDx 4 29 186 93 58 0 370
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 1 42 49 23 0 116
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 2 50 26 13 0 91
Illumina Laboratory Services, Illumina 0 1 70 10 8 0 89
Fulgent Genetics, Fulgent Genetics 1 3 54 6 1 0 65
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario 0 2 26 13 16 0 57
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 1 3 14 23 14 0 55
CeGaT Center for Human Genetics Tuebingen 5 6 7 24 2 0 44
Clinical Genetics, Academic Medical Center 1 0 6 5 31 0 43
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 1 6 16 11 0 35
PreventionGenetics, part of Exact Sciences 0 1 8 20 5 0 34
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 2 0 4 19 8 0 33
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 1 1 20 8 0 31
Mayo Clinic Laboratories, Mayo Clinic 0 0 14 9 8 0 31
Breakthrough Genomics, Breakthrough Genomics 0 0 2 13 11 0 26
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 11 9 4 0 24
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 2 7 8 5 0 22
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 19 19
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
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 0 11 0 0 0 11
Revvity Omics, Revvity 2 0 8 0 0 0 10
AiLife Diagnostics, AiLife Diagnostics 0 6 3 0 0 0 9
CSER _CC_NCGL, University of Washington 0 1 5 2 0 0 8
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 5 0 1 0 6
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego 0 0 1 4 0 0 5
Eurofins Ntd Llc (ga) 0 0 3 1 1 0 5
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 1 4 0 0 0 5
Molecular Genetics Laboratory - Cardiogenetics, CHU de Nantes 2 0 3 0 0 0 5
OMIM 4 0 1 0 0 0 5
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 3 1 0 0 4
Clinical Genetics Laboratory, Skane University Hospital Lund 0 0 4 0 0 0 4
Clinical Genomics Laboratory, Stanford Medicine 0 0 4 0 0 0 4
Cohesion Phenomics 0 0 0 0 4 0 4
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 4 0 0 0 4
Phosphorus, Inc. 0 0 2 2 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 4 0 0 0 4
Baylor Genetics 1 1 1 0 0 0 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 3 0 0 0 3
Molecular Genetics Laboratory, Motol Hospital 1 2 0 0 0 0 3
Clinical Center for Gene Diagnosis and Therapy, Department of Cardiovascular Surgery, The Second Xiangya Hospital of Central South University 0 0 2 0 0 0 2
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 0 2 0 0 0 2
Dept of Medical Biology, Uskudar University 0 0 2 0 0 0 2
Dubai Health Genomic Medicine Center, Dubai Health 0 0 1 0 1 0 2
Institut für Laboratoriums- und Transfusionsmedizin, Herz- und Diabeteszentrum Nordrhein-Westfalen 0 0 1 1 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 2 0 0 0 0 2
KardioGenetik, Herz- und Diabeteszentrum NRW 0 0 2 0 0 0 2
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 0 1 1 0 0 2
MVZ Praenatalmedizin und Genetik Nuernberg 0 1 1 0 0 0 2
Mendelics 0 0 0 0 2 0 2
Molecular Genetics, Royal Melbourne Hospital 1 0 0 0 1 0 2
New York Genome Center 0 0 2 0 0 0 2
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 0 0 2 0 0 0 2
3billion 0 1 0 0 0 0 1
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute 0 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 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
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 0 1
Dasa 1 0 0 0 0 0 1
Department of Genetics, Sultan Qaboos University Hospital 0 0 1 0 0 0 1
Department of Medical Bioinformatics, Sinopath Diagnosis 0 1 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Genetics and Genomics Program, Sidra Medicine 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 1 0 0 0 0 0 1
Institute of Human Genetics, University of Wuerzburg 0 1 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 0 1 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 0 0 1
Klaassen Lab, Charite University Medicine Berlin 0 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 0 1
MVZ Martinsried, Medicover Genetics 1 0 0 0 0 0 1
National Institute of Allergy and Infectious Diseases - Centralized Sequencing Program, National Institutes of Health 0 1 0 0 0 0 1
OLLIN Analises Genomicas, OLLIN 0 1 0 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 1 0 0 0 0 1
Variantyx, Inc. 0 1 0 0 0 0 1

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