ClinVar Miner

Variants in gene DSG2

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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 risk factor not provided total
86 93 1022 580 115 1 3 1640

Condition and significance breakdown #

Total conditions: 32
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Arrhythmogenic right ventricular dysplasia 10 79 37 663 404 47 0 1 1171
Cardiomyopathy 1 7 431 221 50 0 0 692
Cardiovascular phenotype 12 8 204 159 21 0 0 404
not provided 15 40 152 96 63 0 1 339
not specified 0 1 75 92 63 0 1 196
Arrhythmogenic right ventricular dysplasia 10; Dilated cardiomyopathy 1BB 4 9 75 13 3 0 0 102
Arrhythmogenic right ventricular cardiomyopathy 3 13 46 10 3 0 0 70
DSG2-related condition 0 0 8 15 4 0 0 27
Dilated Cardiomyopathy, Dominant 0 0 21 1 0 0 0 22
Inborn genetic diseases 0 0 14 1 0 0 0 15
Primary dilated cardiomyopathy 1 1 4 1 0 0 0 7
Dilated cardiomyopathy 1BB 2 1 2 0 0 1 0 6
Primary familial hypertrophic cardiomyopathy 0 0 5 0 0 0 0 5
Hypertrophic cardiomyopathy 0 0 3 1 0 0 0 4
Long QT syndrome 0 1 2 1 0 0 0 4
Arrhythmogenic right ventricular dysplasia 1 0 0 1 1 1 0 0 3
Cardiac arrest 0 0 3 0 0 0 0 3
Arrhythmogenic right ventricular dysplasia 9 2 0 0 0 0 0 0 2
Restrictive cardiomyopathy; Cardiomyopathy 0 0 0 0 2 0 0 2
Arrhythmogenic right ventricular cardiomyopathy; Cardiomyopathy 0 0 0 0 1 0 0 1
Cardiac arrhythmia 0 0 0 0 1 0 0 1
Cardiomyopathy; Systolic heart failure 0 0 0 0 1 0 0 1
Catecholaminergic polymorphic ventricular tachycardia 1 0 0 1 0 0 0 0 1
Conduction disorder of the heart 0 0 1 0 0 0 0 1
Dilated cardiomyopathy 1A 0 0 1 0 0 0 0 1
Familial isolated dilated cardiomyopathy 0 0 1 0 0 0 0 1
Intellectual disability 0 1 0 0 0 0 0 1
Left ventricular noncompaction cardiomyopathy 0 0 1 0 0 0 0 1
Primary dilated cardiomyopathy; Cardiomyopathy 0 0 0 0 1 0 0 1
Primary familial dilated cardiomyopathy 0 0 1 0 0 0 0 1
Sudden cardiac death 0 1 0 0 0 0 0 1
Ventricular fibrillation 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 68
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 72 17 598 378 43 0 0 1108
Color Diagnostics, LLC DBA Color Health 1 0 414 214 39 0 0 668
Ambry Genetics 12 8 218 160 21 0 0 419
GeneDx 14 24 122 83 78 0 0 321
Illumina Laboratory Services, Illumina 0 1 103 33 11 0 0 148
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 2 5 50 36 20 0 1 114
Fulgent Genetics, Fulgent Genetics 3 8 71 13 3 0 0 98
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario 0 5 36 12 31 0 0 84
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 26 31 15 0 0 73
Clinical Genetics, Academic Medical Center 1 0 7 4 52 0 0 64
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 4 35 19 0 0 59
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 1 4 26 21 0 0 53
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 1 4 16 21 0 0 43
PreventionGenetics, part of Exact Sciences 0 0 8 17 16 0 0 41
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 0 14 7 12 0 0 33
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1 7 10 14 0 0 32
CeGaT Center for Human Genetics Tuebingen 1 9 5 13 2 0 0 30
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 20 8 0 0 29
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 0 3 9 6 10 0 0 28
Blueprint Genetics 1 3 17 0 0 0 0 21
AiLife Diagnostics, AiLife Diagnostics 2 4 11 0 0 0 0 17
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego 0 2 4 3 6 0 0 15
Eurofins Ntd Llc (ga) 0 0 4 3 4 0 0 11
Mayo Clinic Laboratories, Mayo Clinic 0 0 11 0 0 0 0 11
OMIM 10 0 0 0 0 1 0 10
Cohesion Phenomics 0 0 0 1 9 0 0 10
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 2 6 0 0 0 0 0 8
CSER _CC_NCGL, University of Washington 0 1 6 1 0 0 0 8
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 1 6 1 0 0 0 8
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 4 1 1 0 0 6
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 2 4 0 0 0 0 6
Molecular Genetics Laboratory - Cardiogenetics, CHU de Nantes 1 0 4 0 0 0 0 5
Revvity Omics, Revvity 0 1 2 1 0 0 0 4
Mendelics 1 0 1 0 2 0 0 4
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 2 1 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 0 3 1 0 0 0 0 4
Baylor Genetics 1 1 1 0 0 0 0 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 1 0 0 0 0 0 3
Phosphorus, Inc. 0 0 1 2 0 0 0 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 3 0 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 1 1 0 0 0 0 3
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 0 2 0 0 0 0 0 2
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 2 0 0 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 0 2 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 2 0 0 0 0 0 2
Klaassen Lab, Charite University Medicine Berlin 0 1 1 0 0 0 0 2
New York Genome Center 0 1 1 0 0 0 0 2
Dept of Medical Biology, Uskudar University 0 1 1 0 0 0 0 2
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 0 0 1 0 0 0 1
MGZ Medical Genetics Center 0 1 0 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 0 0 1
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute 0 0 1 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 0 1 0 0 0 0 1
Centre of Medical Genetics, University of Antwerp 0 1 0 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 0 1 0 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 1 0 0 0 1
Donald Williams Parsons Laboratory, Baylor College of Medicine 1 0 0 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 1 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 0 0 0 1
Breda Genetics srl 0 1 0 0 0 0 0 1
Genetics and Genomics Program, Sidra Medicine 0 0 1 0 0 0 0 1
Division of Medical Genetics, University of Washington 0 1 0 0 0 0 0 1
3billion 0 1 0 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 1 0 0 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 0 0 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 0 0 1 0 0 0 0 1
Genotypic Technology Pvt Ltd 0 0 1 0 0 0 0 1

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