ClinVar Miner

Variants in gene DSP

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Gene type:
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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 association not provided total
496 244 2375 1922 328 1 6 4468

Condition and significance breakdown #

Total conditions: 78
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Condition pathogenic likely pathogenic uncertain significance likely benign benign association not provided total
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 402 40 1066 1487 195 0 0 3190
Cardiomyopathy 32 44 980 579 75 0 0 1678
Cardiovascular phenotype 96 15 639 400 34 0 0 1184
not provided 72 78 449 232 129 0 3 902
not specified 1 0 201 187 114 0 0 443
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8; Lethal acantholytic epidermolysis bullosa; Woolly hair-skin fragility syndrome; Keratosis palmoplantaris striata 2; Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis 3 7 207 27 5 0 0 249
Arrhythmogenic right ventricular dysplasia 8 19 21 148 39 15 0 1 238
Lethal acantholytic epidermolysis bullosa 4 0 129 39 33 0 0 205
Woolly hair-skin fragility syndrome 0 1 131 39 33 0 0 204
Arrhythmogenic right ventricular cardiomyopathy 9 25 45 20 6 0 0 100
DSP-related condition 1 5 13 49 3 0 0 71
Primary dilated cardiomyopathy 3 17 22 4 0 0 0 46
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma 17 6 5 0 11 0 0 37
Inborn genetic diseases 1 0 34 2 0 0 0 37
Epidermolysis bullosa simplex due to plakophilin deficiency 0 0 16 10 0 0 0 26
Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis 9 3 1 0 8 0 0 21
Keratosis palmoplantaris striata 2 2 3 6 0 8 0 0 19
Primary familial hypertrophic cardiomyopathy 0 0 14 2 0 0 0 16
Primary dilated cardiomyopathy; Arrhythmogenic right ventricular cardiomyopathy 1 10 0 0 0 0 0 11
Primary familial dilated cardiomyopathy 0 1 8 0 0 0 0 9
Arrhythmogenic cardiomyopathy 6 2 0 0 0 0 0 8
Familial isolated arrhythmogenic right ventricular dysplasia 3 4 1 0 0 0 0 8
Dilated cardiomyopathy 1A 1 1 3 2 0 0 0 7
Left ventricular noncompaction cardiomyopathy 0 0 6 0 0 0 0 6
Long QT syndrome 0 0 6 0 0 0 0 6
Cardiac arrhythmia 2 3 0 0 0 0 0 5
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8; Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis 0 1 2 0 0 0 1 4
Cardiac arrest 0 1 3 0 0 0 0 4
Dilated cardiomyopathy 1S 0 0 3 1 0 0 0 4
Hypertrophic cardiomyopathy 0 0 4 0 0 0 0 4
Ventricular tachycardia 0 0 4 0 0 0 0 4
Arrhythmogenic right ventricular dysplasia 9 0 3 0 0 0 0 0 3
Arrhythmogenic right ventricular dysplasia 1 0 0 2 0 0 0 0 2
Conduction disorder of the heart 1 0 1 0 0 0 0 2
DSP-Related Disorders 1 1 0 0 0 0 0 2
Myocarditis 0 2 0 0 0 0 0 2
Palmoplantar blistering; Skin fragility with non-scarring blistering 0 0 2 0 0 0 0 2
Primary dilated cardiomyopathy; Long QT syndrome 0 1 1 0 0 0 0 2
Sudden unexplained death 0 0 2 0 0 0 0 2
Wolff-Parkinson-White pattern 0 0 2 0 0 0 0 2
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular cardiomyopathy; Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis 0 0 0 0 0 0 1 1
Arrhythmogenic right ventricular cardiomyopathy; Brugada syndrome 0 0 0 0 1 0 0 1
Arrhythmogenic right ventricular cardiomyopathy; Sudden unexplained death 0 0 0 0 1 0 0 1
Brugada syndrome 0 0 1 0 0 0 0 1
Cardiac arrhythmia; Sudden cardiac death; Ventricular fibrillation; Aortic dilatation; Bicuspid aortic valve 1 0 0 0 0 0 0 1
Cardiomyopathy; Amyloidosis 0 0 1 0 0 0 0 1
Cardiomyopathy; Hypertrophic cardiomyopathy 0 0 0 0 1 0 0 1
Cardiomyopathy; Long QT syndrome; Hypertrophic cardiomyopathy 0 0 0 0 1 0 0 1
Catecholaminergic polymorphic ventricular tachycardia 1 0 0 1 0 0 0 0 1
Chronic lung disease 0 0 1 0 0 0 0 1
Chronic obstructive pulmonary disease 0 0 1 0 0 0 0 1
Collapse (finding) 0 0 1 0 0 0 0 1
Combined pulmonary fibrosis-emphysema syndrome 0 0 0 0 0 1 0 1
DSP-related arrhythmogenic cardiomyopathy 1 0 0 0 0 0 0 1
DSP-related cardiomyopathy 0 1 0 0 0 0 0 1
Familial restrictive cardiomyopathy 0 0 1 0 0 0 0 1
Global developmental delay 1 0 0 0 0 0 0 1
Hypertrophic cardiomyopathy; Systolic heart failure 0 0 0 0 1 0 0 1
Interstitial lung disease 2 0 0 0 0 0 1 0 1
Left ventricular hypertrophy 0 0 1 0 0 0 0 1
Left ventricular noncompaction 0 0 1 0 0 0 0 1
Left ventricular noncompaction cardiomyopathy; Ventricular tachycardia 0 1 0 0 0 0 0 1
Long QT syndrome 1 1 0 0 0 0 0 0 1
Long QT syndrome; Hypertrophic cardiomyopathy; Ventricular tachycardia 0 0 0 0 1 0 0 1
Marfanoid habitus and intellectual disability 0 0 1 0 0 0 0 1
Paroxysmal familial ventricular fibrillation 0 0 1 0 0 0 0 1
Primary dilated cardiomyopathy; Cardiomyopathy 0 0 0 1 0 0 0 1
Primary dilated cardiomyopathy; Migraine; Hemiplegia 0 0 1 0 0 0 0 1
Progressive familial heart block 0 1 0 0 0 0 0 1
Restrictive cardiomyopathy 0 0 0 1 0 0 0 1
Restrictive cardiomyopathy; Long QT syndrome 0 0 1 0 0 0 0 1
Right ventricular cardiomyopathy 0 1 0 0 0 0 0 1
Subvalvular aortic stenosis 0 0 1 0 0 0 0 1
Sudden death 0 0 1 0 0 0 0 1
Syncope; Paroxysmal atrial fibrillation; Right ventricular dilatation; Ventricular tachycardia; Abnormal left ventricular function 0 0 1 0 0 0 0 1
Ventricular arrhythmia; Right ventricular cardiomyopathy 0 1 0 0 0 0 0 1
Ventricular fibrillation 0 0 1 0 0 0 0 1
Ventricular fibrillation, paroxysmal familial, type 1 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 113
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association not provided total
Invitae 404 40 1066 1490 195 0 0 3195
Color Diagnostics, LLC DBA Color Health 28 20 951 559 56 0 0 1614
Ambry Genetics 97 15 673 402 34 0 0 1221
GeneDx 59 57 312 201 143 0 2 774
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 4 41 121 78 46 0 0 290
Fulgent Genetics, Fulgent Genetics 3 6 199 27 5 0 0 240
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 7 11 83 50 49 0 0 200
Illumina Laboratory Services, Illumina 0 2 132 51 28 0 0 200
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario 4 16 71 43 35 0 0 169
Clinical Genetics, Academic Medical Center 5 1 18 2 80 0 0 106
CeGaT Center for Human Genetics Tuebingen 4 3 29 53 8 0 0 97
PreventionGenetics, part of Exact Sciences 1 5 13 53 22 0 0 94
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 3 19 27 37 0 0 87
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 3 2 11 36 34 0 0 86
Genome Diagnostics Laboratory, University Medical Center Utrecht 4 0 12 33 27 0 0 76
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 4 4 14 33 20 0 0 75
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 2 20 22 24 0 0 69
Blueprint Genetics 0 12 50 4 0 0 0 66
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 4 3 29 10 15 0 0 61
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 0 20 17 12 0 0 49
Stanford Center for Inherited Cardiovascular Disease, Stanford University 1 5 30 1 1 0 0 38
Mayo Clinic Laboratories, Mayo Clinic 3 1 25 0 0 0 0 29
OMIM 25 0 2 0 0 0 0 27
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego 0 3 8 9 5 0 0 25
Eurofins Ntd Llc (ga) 1 0 10 5 5 0 0 21
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 13 4 3 0 0 20
AiLife Diagnostics, AiLife Diagnostics 1 1 17 0 0 0 0 19
Revvity Omics, Revvity 0 2 14 1 0 0 0 17
Cohesion Phenomics 0 0 0 1 15 0 0 16
CSER _CC_NCGL, University of Washington 0 1 7 5 0 0 0 13
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 3 9 0 0 0 0 13
Institute of Human Genetics, University of Leipzig Medical Center 4 0 5 2 0 0 0 11
New York Genome Center 1 2 8 0 0 0 0 11
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 10 0 0 0 0 10
Baylor Genetics 2 2 5 0 0 0 0 9
Phosphorus, Inc. 1 0 5 2 1 0 0 9
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 1 7 0 0 0 0 8
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute 1 1 5 0 1 0 0 8
Sangiuolo Lab - Medical Genetics Laboratory, Tor Vergata University 6 2 0 0 0 0 0 8
Genome-Nilou Lab 0 0 0 0 8 0 0 8
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 5 2 0 0 7
Molecular Genetics Laboratory - Cardiogenetics, CHU de Nantes 4 0 3 0 0 0 0 7
Mendelics 2 0 1 0 3 0 0 6
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 1 0 0 5 0 0 0 6
Klaassen Lab, Charite University Medicine Berlin 0 2 3 0 0 0 0 5
deCODE genetics, Amgen 0 5 0 0 0 0 0 5
Genetics and Genomics Program, Sidra Medicine 0 0 2 3 0 0 0 5
Dept of Medical Biology, Uskudar University 0 0 5 0 0 0 0 5
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 0 4 0 0 0 0 4
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 1 1 2 0 0 0 0 4
Institut für Laboratoriums- und Transfusionsmedizin, Herz- und Diabeteszentrum Nordrhein-Westfalen 0 0 3 1 0 0 0 4
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 2 1 0 0 0 0 4
KardioGenetik, Herz- und Diabeteszentrum NRW 0 3 1 0 0 0 0 4
MGZ Medical Genetics Center 0 2 1 0 0 0 0 3
Division of Human Genetics, Children's Hospital of Philadelphia 0 1 2 0 0 0 0 3
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 3 0 0 0 0 3
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 3 0 0 0 0 3
Center for Human Genetics, University of Leuven 0 0 3 0 0 0 0 3
Institute of Human Genetics, University of Wuerzburg 0 2 1 0 0 0 0 3
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 3 0 0 0 0 0 0 3
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 3 0 0 0 0 3
KTest Genetics, KTest 2 1 0 0 0 0 0 3
Genomics England Pilot Project, Genomics England 0 3 0 0 0 0 0 3
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 2 0 0 0 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 2 0 0 0 0 2
Heart Center, Academic Medical Center Amsterdam 0 2 0 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 0 2 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 1 0 1 0 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 1 0 0 0 0 2
Clinical Genomics Program, Stanford Medicine 0 0 2 0 0 0 0 2
Loeys Lab, Universiteit Antwerpen 0 0 2 0 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 2 2
Research Unit of Cardiovascular and Metabolic Disease, Inserm 0 2 0 0 0 0 0 2
Athena Diagnostics Inc 0 1 0 0 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 0 1
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 0 1 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 0 0 1
Strand Center for Genomics and Personalized Medicine, Strand Life Sciences Pvt Ltd 0 1 0 0 0 0 0 1
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 0 1 0 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 0 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 0 0 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 0 1 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 1 0 0 0 0 0 1
Forensic Genetics Laboratory, Harris County Institute of Forensic Sciences 1 0 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 0 1
Institute Of Molecular Biology And Genetics, Federal Almazov National Medical Research Centre 0 1 0 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 0 1 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
Undiagnosed Diseases Network, NIH 1 0 0 0 0 0 0 1
Human Development and Health, University of Southampton 0 0 0 0 0 0 1 1
SIB Swiss Institute of Bioinformatics 0 0 1 0 0 0 0 1
Rampazzo Lab, Human Molecular Genetics Unit, University of Padua 0 1 0 0 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 0 0 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 0 1 0 0 0 1
Gharavi Laboratory, Columbia University 1 0 0 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 1 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 0 1
HLA Laboratory, Instituto Nacional de Enfermedades Respiratorias Ismael Cosio Villegas 0 0 1 0 0 1 0 1
Institute of Human Genetics, University Hospital Muenster 0 0 1 0 0 0 0 1
Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences 0 1 0 0 0 0 0 1
3billion 0 0 1 0 0 0 0 1
Departamento de Patología, Instituto de Genética, Universidad Nacional de Colombia 1 0 0 0 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 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 0 1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 1 0 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 1 0 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 1 1
Arcensus 0 1 0 0 0 0 0 1
Servicio Canario de Salud, Hospital Universitario Nuestra Sra. de Candelaria 0 1 0 0 0 0 0 1
Genotypic Technology Pvt Ltd 0 0 1 0 0 0 0 1

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