ClinVar Miner

Variants in gene DSG2

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Minimum submission review status: Collection method:
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Gene type:

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
121 132 1414 778 121 20 2213

Condition and significance breakdown #

Total conditions: 43
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Arrhythmogenic right ventricular dysplasia 10 101 55 833 504 47 0 1474
Cardiomyopathy 2 9 554 302 51 0 894
Cardiovascular phenotype 24 15 399 257 24 0 710
Arrhythmogenic right ventricular cardiomyopathy 6 18 467 192 20 0 686
not provided 20 58 231 108 70 1 450
not specified 0 1 80 119 64 1 219
Arrhythmogenic right ventricular dysplasia 10; Dilated cardiomyopathy 1BB 4 17 78 13 3 0 113
DSG2-related disorder 0 0 12 18 4 0 34
Dilated cardiomyopathy 1BB 4 3 8 1 0 0 14
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 8 8
Primary dilated cardiomyopathy 1 1 4 1 0 0 7
Hypertrophic cardiomyopathy 0 0 4 1 0 0 5
Primary familial hypertrophic cardiomyopathy 0 0 5 0 0 0 5
Long QT syndrome 0 1 2 1 0 0 4
Cardiac arrest 0 0 3 0 0 0 3
Familial isolated arrhythmogenic right ventricular dysplasia 2 1 0 0 0 0 3
Arrhythmogenic right ventricular dysplasia 9 2 0 0 0 0 0 2
Cervical cancer 0 0 0 0 0 2 2
Lung cancer 0 0 0 0 0 2 2
Nonpapillary renal cell carcinoma 0 0 0 0 0 2 2
Ovarian serous cystadenocarcinoma 0 0 0 0 0 2 2
Restrictive cardiomyopathy; Cardiomyopathy 0 0 0 0 2 0 2
Sarcoma 0 0 0 0 0 2 2
Arrhythmogenic right ventricular cardiomyopathy; Cardiomyopathy 0 0 0 0 1 0 1
Arrhythmogenic right ventricular dysplasia 1 0 0 0 1 0 0 1
Arrhythmogenic right ventricular dysplasia 10; Arrhythmogenic right ventricular cardiomyopathy; Dilated cardiomyopathy 1BB 0 0 0 0 0 1 1
Cardiac arrhythmia 0 0 0 0 1 0 1
Cardiomyopathy; Systolic heart failure 0 0 0 0 1 0 1
Catecholaminergic polymorphic ventricular tachycardia 1 0 0 1 0 0 0 1
Ciliary dyskinesia, primary, 40 0 0 1 0 0 0 1
Clear cell carcinoma of kidney 0 0 0 0 0 1 1
Dilated and arrhythmogenic cardiomyopathy 0 1 0 0 0 0 1
Familial cancer of breast 0 0 0 0 0 1 1
Familial isolated dilated cardiomyopathy 0 0 1 0 0 0 1
Intellectual disability 0 1 0 0 0 0 1
Left ventricular noncompaction cardiomyopathy 0 0 1 0 0 0 1
Primary dilated cardiomyopathy; Cardiomyopathy 0 0 0 0 1 0 1
Primary familial dilated cardiomyopathy 0 0 1 0 0 0 1
Squamous cell lung carcinoma 0 0 0 0 0 1 1
Sudden cardiac death 0 1 0 0 0 0 1
Thymoma 0 0 0 0 0 1 1
Uterine corpus endometrial carcinoma 0 0 0 0 0 1 1
Ventricular fibrillation 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 88
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 93 21 765 478 43 0 1400
Color Diagnostics, LLC DBA Color Health 1 2 534 297 40 0 874
Ambry Genetics 23 14 385 257 24 0 703
All of Us Research Program, National Institutes of Health 2 1 451 188 19 0 661
GeneDx 15 41 189 82 78 0 405
Illumina Laboratory Services, Illumina 0 2 81 29 11 0 123
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 2 8 48 37 20 1 116
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 2 39 49 19 0 112
Fulgent Genetics, Fulgent Genetics 3 14 73 13 3 0 106
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 1 3 28 33 24 0 89
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario 0 5 35 12 31 0 83
Clinical Genetics, Academic Medical Center 1 0 7 4 52 0 64
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 4 35 19 0 59
Mayo Clinic Laboratories, Mayo Clinic 0 1 23 12 22 0 58
CeGaT Center for Human Genetics Tuebingen 7 10 6 28 3 0 54
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 1 4 26 21 0 53
PreventionGenetics, part of Exact Sciences 0 0 12 20 16 0 48
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 1 4 16 21 0 43
Breakthrough Genomics, Breakthrough Genomics 0 0 2 14 24 0 40
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1 7 13 14 0 35
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 0 14 6 12 0 32
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 20 8 0 29
Blueprint Genetics 1 2 17 0 0 0 20
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 1 13 2 0 0 20
AiLife Diagnostics, AiLife Diagnostics 2 4 11 0 0 0 17
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 17 17
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego 0 2 4 2 6 0 14
Clinical Genetics Laboratory, Skane University Hospital Lund 0 3 7 0 0 0 10
Cohesion Phenomics 0 0 0 1 9 0 10
Eurofins Ntd Llc (ga) 0 0 3 3 4 0 10
OMIM 10 0 0 0 0 0 10
CSER _CC_NCGL, University of Washington 0 1 6 1 0 0 8
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 2 6 0 0 0 0 8
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 1 6 1 0 0 8
3billion 2 2 3 0 0 0 7
Revvity Omics, Revvity 0 4 2 1 0 0 7
Department of Pathology and Laboratory Medicine, Sinai Health System 0 2 3 1 0 0 6
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 4 1 1 0 6
Institute of Human Genetics, University of Leipzig Medical Center 1 4 1 0 0 0 6
Variantyx, Inc. 2 4 0 0 0 0 6
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 2 3 0 0 0 5
Juno Genomics, Hangzhou Juno Genomics, Inc 0 5 0 0 0 0 5
Mendelics 2 0 1 0 2 0 5
Molecular Genetics Laboratory - Cardiogenetics, CHU de Nantes 1 0 4 0 0 0 5
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 1 1 1 0 0 4
KardioGenetik, Herz- und Diabeteszentrum NRW 0 2 2 0 0 0 4
Baylor Genetics 1 1 1 0 0 0 3
Clinical Genomics Laboratory, Stanford Medicine 0 0 3 0 0 0 3
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 1 1 0 0 0 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 1 0 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 2 0 0 0 3
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 2 1 0 0 0 0 3
Phosphorus, Inc. 0 0 1 2 0 0 3
Cardiac Research Department, West China Second University Hospital 2 0 0 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 2 0 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 0 2 0 0 0 0 2
Dept of Medical Biology, Uskudar University 0 1 1 0 0 0 2
Klaassen Lab, Charite University Medicine Berlin 0 1 1 0 0 0 2
MVZ Medizinische Genetik Mainz 0 2 0 0 0 0 2
Medical Genome Center, National Cerebral and Cardiovascular Center 1 0 1 0 0 0 2
New York Genome Center 0 1 1 0 0 0 2
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute 0 0 1 0 0 0 1
Breda Genetics srl, Breda Genetics srl 0 1 0 0 0 0 1
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen 0 1 0 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 1 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 0 1 0 0 0 1
Centre of Medical Genetics, University of Antwerp 0 1 0 0 0 0 1
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 0 0 1 0 0 1
Department of Human Genetics, Hannover Medical School 1 0 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Division of Medical Genetics, University of Washington 0 1 0 0 0 0 1
Donald Williams Parsons Laboratory, Baylor College of Medicine 1 0 0 0 0 0 1
Genetics and Genomics Program, Sidra Medicine 0 0 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Genotypic Technology Pvt Ltd 0 0 1 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 0 0 1 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 1 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 0 1
MGZ Medical Genetics Center 0 1 0 0 0 0 1
MVZ Martinsried, Medicover Genetics 0 0 1 0 0 0 1
Molecular Genetics Laboratory, Motol Hospital 1 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 0 1
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust 0 1 0 0 0 0 1
OLLIN Analises Genomicas, OLLIN 0 1 0 0 0 0 1

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