ClinVar Miner

Variants in gene DSP

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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
655 357 3437 2435 359 1 47 6133

Condition and significance breakdown #

Total conditions: 102
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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 8 502 55 1442 1799 222 0 0 4019
Cardiomyopathy 59 66 1332 812 75 0 0 2305
Cardiovascular phenotype 187 28 1195 643 38 0 0 2084
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma 50 57 1100 403 31 0 0 1633
not provided 88 111 676 278 129 0 3 1204
not specified 1 0 243 269 116 0 0 548
Arrhythmogenic right ventricular dysplasia 8 40 32 165 41 16 0 1 286
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 7 196 27 5 0 0 238
Lethal acantholytic epidermolysis bullosa 5 0 113 28 32 0 0 178
Woolly hair-skin fragility syndrome 0 1 115 28 32 0 0 176
DSP-related disorder 5 10 26 58 3 0 0 102
Arrhythmogenic right ventricular cardiomyopathy 13 35 29 8 5 0 0 87
Primary dilated cardiomyopathy 8 20 23 5 0 0 0 55
Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis 12 7 8 0 8 0 0 35
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8; Lethal acantholytic epidermolysis bullosa; Keratosis palmoplantaris striata 2; Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis 2 8 24 0 0 0 0 34
Keratosis palmoplantaris striata 2 2 3 7 0 8 0 0 20
Familial isolated arrhythmogenic right ventricular dysplasia 11 4 1 0 0 0 0 16
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
Ovarian serous cystadenocarcinoma 0 0 0 0 0 0 10 10
Hypertrophic cardiomyopathy 0 0 9 0 0 0 0 9
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8; Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis 0 1 4 0 0 0 1 6
Left ventricular noncompaction cardiomyopathy 0 0 6 0 0 0 0 6
Long QT syndrome 0 0 6 0 0 0 0 6
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 0 6 6
Uterine corpus endometrial carcinoma 0 0 0 0 0 0 6 6
Cardiac arrhythmia 2 3 0 0 0 0 0 5
Cervical cancer 0 0 0 0 0 0 5 5
Familial cancer of breast 0 0 0 0 0 0 5 5
Nonpapillary renal cell carcinoma 0 0 0 0 0 0 5 5
Arrhythmogenic right ventricular dysplasia 8; Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis 1 1 2 0 0 0 0 4
Cardiac arrest 0 1 3 0 0 0 0 4
Dilated cardiomyopathy 1S 0 0 3 1 0 0 0 4
Malignant tumor of esophagus 0 0 0 0 0 0 4 4
Ventricular tachycardia 0 0 4 0 0 0 0 4
Arrhythmogenic right ventricular dysplasia 9 0 3 0 0 0 0 0 3
Cholangiocarcinoma 0 0 0 0 0 0 3 3
Gastric cancer 0 0 0 0 0 0 3 3
Primary familial dilated cardiomyopathy 0 0 3 0 0 0 0 3
Colon adenocarcinoma 0 0 0 0 0 0 2 2
Hypertrophic cardiomyopathy 2 0 0 0 1 0 0 1 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
Pancreatic adenocarcinoma 0 0 0 0 0 0 2 2
Primary dilated cardiomyopathy; Long QT syndrome 0 1 1 0 0 0 0 2
Restrictive cardiomyopathy 0 0 1 1 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 cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8; Lethal acantholytic epidermolysis bullosa 1 0 0 0 0 0 0 1
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Lethal acantholytic epidermolysis bullosa; Cardiomyopathy 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 dysplasia 1 0 0 1 0 0 0 0 1
Arrhythmogenic right ventricular dysplasia 8; Keratosis palmoplantaris striata 2; Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis 0 1 0 0 0 0 0 1
Brugada syndrome 0 0 1 0 0 0 0 1
Brugada syndrome 1 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 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
Dilated and arrhythmogenic cardiomyopathy 1 0 0 0 0 0 0 1
Dilated cardiomyopathy 1A 1 0 0 0 0 0 0 1
Dilated cardiomyopathy 1G 0 1 0 0 0 0 0 1
Familial pancreatic carcinoma 0 0 0 0 0 0 1 1
Familial restrictive cardiomyopathy 0 0 1 0 0 0 0 1
Global developmental delay 1 0 0 0 0 0 0 1
Hepatocellular carcinoma 0 0 0 0 0 0 1 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
Lung cancer 0 0 0 0 0 0 1 1
Marfanoid habitus and intellectual disability 0 0 1 0 0 0 0 1
Melanoma 0 0 0 0 0 0 1 1
Non-compaction cardiomyopathy 0 1 0 0 0 0 0 1
Palmoplantar keratodermas 0 1 0 0 0 0 0 1
Paroxysmal familial ventricular fibrillation 0 0 1 0 0 0 0 1
Primary dilated cardiomyopathy; Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Lethal acantholytic epidermolysis bullosa; Arrhythmogenic right ventricular cardiomyopathy; Severe dermatitis-multiple allergies-metabolic wasting syndrome; Palmoplantar keratoderma; Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis 0 0 0 0 0 0 1 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; Long QT syndrome 0 0 1 0 0 0 0 1
Right ventricular cardiomyopathy 0 1 0 0 0 0 0 1
Sarcoma 0 0 0 0 0 0 1 1
See cases 0 0 1 0 0 0 0 1
Skin fragility-woolly hair-palmoplantar keratoderma syndrome 0 1 0 0 0 0 0 1
Squamous cell lung carcinoma 0 0 0 0 0 0 1 1
Subvalvular aortic stenosis 0 0 1 0 0 0 0 1
Sudden death 0 0 1 0 0 0 0 1
Susceptibility to severe coronavirus disease (COVID-19) 0 1 0 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: 137
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association not provided total
Labcorp Genetics (formerly Invitae), Labcorp 502 55 1440 1802 222 0 0 4021
Color Diagnostics, LLC DBA Color Health 53 41 1301 795 56 0 0 2246
Ambry Genetics 183 17 1160 643 38 0 0 2041
All of Us Research Program, National Institutes of Health 29 47 1089 403 21 0 0 1589
GeneDx 70 76 523 201 143 0 2 1015
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 16 12 136 99 53 0 0 316
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 4 49 120 79 47 0 0 299
Fulgent Genetics, Fulgent Genetics 4 7 209 27 5 0 0 252
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 12 11 68 72 34 0 0 197
Illumina Laboratory Services, Illumina 0 2 116 40 27 0 0 172
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario 4 17 70 43 35 0 0 169
CeGaT Center for Human Genetics Tuebingen 9 6 38 80 10 0 0 143
Mayo Clinic Laboratories, Mayo Clinic 4 3 51 27 37 0 0 122
PreventionGenetics, part of Exact Sciences 3 6 26 62 22 0 0 119
Clinical Genetics, Academic Medical Center 5 1 18 2 80 0 0 106
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 3 32 35 24 0 0 95
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
Blueprint Genetics 0 12 50 4 0 0 0 66
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 0 20 17 12 0 0 49
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 21 3 22 3 0 0 0 49
Breakthrough Genomics, Breakthrough Genomics 0 0 7 36 0 0 0 43
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 0 39 39
Stanford Center for Inherited Cardiovascular Disease, Stanford University 1 5 30 1 1 0 0 38
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
Revvity Omics, Revvity 0 5 18 1 0 0 0 24
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
Cohesion Phenomics 0 0 0 1 15 0 0 16
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 4 3 7 0 0 0 0 14
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
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 3 4 6 0 0 0 0 13
Clinical Genetics Laboratory, Skane University Hospital Lund 1 8 3 0 0 0 0 12
Institute of Human Genetics, University of Leipzig Medical Center 4 1 5 2 0 0 0 12
Molecular Genetics, Royal Melbourne Hospital 4 2 4 2 0 0 0 12
New York Genome Center 1 2 8 0 0 0 0 11
3billion 4 3 3 0 0 0 0 10
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
Department of Pathology and Laboratory Medicine, Sinai Health System 0 2 7 0 0 0 0 9
Juno Genomics, Hangzhou Juno Genomics, Inc 3 6 0 0 0 0 0 9
Phosphorus, Inc. 1 0 5 2 1 0 0 9
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute 1 1 5 0 1 0 0 8
Genome-Nilou Lab 0 0 0 0 8 0 0 8
Sangiuolo Lab - Medical Genetics Laboratory, Tor Vergata University 6 2 0 0 0 0 0 8
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 5 2 0 0 7
Clinical Genomics Laboratory, Stanford Medicine 0 0 7 0 0 0 0 7
KardioGenetik, Herz- und Diabeteszentrum NRW 0 4 3 0 0 0 0 7
Molecular Genetics Laboratory - Cardiogenetics, CHU de Nantes 4 0 3 0 0 0 0 7
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 1 0 0 5 0 0 0 6
Mendelics 2 0 1 0 3 0 0 6
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 1 1 4 0 0 0 0 6
Dept of Medical Biology, Uskudar University 0 0 5 0 0 0 0 5
Genetics and Genomics Program, Sidra Medicine 0 0 2 3 0 0 0 5
Institute of Human Genetics, University of Wuerzburg 0 2 1 1 0 0 1 5
Institute of Immunology and Genetics Kaiserslautern 1 1 3 0 0 0 0 5
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 3 1 0 0 0 0 5
Klaassen Lab, Charite University Medicine Berlin 0 2 3 0 0 0 0 5
Neuberg Centre For Genomic Medicine, NCGM 1 0 4 0 0 0 0 5
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 3 2 0 0 0 0 0 5
deCODE genetics, Amgen 0 5 0 0 0 0 0 5
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 3 0 0 0 0 4
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 0 4 0 0 0 0 4
Dasa 3 1 0 0 0 0 0 4
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 3 0 0 0 0 0 4
Institut für Laboratoriums- und Transfusionsmedizin, Herz- und Diabeteszentrum Nordrhein-Westfalen 0 0 3 1 0 0 0 4
Center for Human Genetics, University of Leuven 0 0 3 0 0 0 0 3
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 2 0 0 0 0 0 3
Division of Human Genetics, Children's Hospital of Philadelphia 0 1 2 0 0 0 0 3
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 3 3
Genomics England Pilot Project, Genomics England 0 3 0 0 0 0 0 3
Hadassah Hebrew University Medical Center 3 0 0 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
Institute of Human Genetics Munich, TUM University Hospital 2 1 0 0 0 0 0 3
KTest Genetics, KTest 2 1 0 0 0 0 0 3
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 3 0 0 0 0 3
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 0 0 3 0 0 0 3
MGZ Medical Genetics Center 0 2 1 0 0 0 0 3
Molecular Genetics Laboratory, Motol Hospital 2 1 0 0 0 0 0 3
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 1 0 0 0 0 2
Centre for Clinical Genetics and Genomic Diagnostics, Zealand University Hospital 2 0 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
Heart Center, Academic Medical Center Amsterdam 0 2 0 0 0 0 0 2
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 1 0 0 0 0 0 2
Loeys Lab, Universiteit Antwerpen 0 0 2 0 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 2 0 0 0 0 2
MVZ Medizinische Genetik Mainz 0 1 1 0 0 0 0 2
Research Unit of Cardiovascular and Metabolic Disease, Inserm 0 2 0 0 0 0 0 2
Arcensus 0 1 0 0 0 0 0 1
Athena Diagnostics 0 1 0 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 0 1 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 0 1 0 0 0 1
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 0 1 0 0 0 0 1
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 1 0 0 0 0 0 1
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen 0 1 0 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 1 0 0 0 0 0 1
Centre of Medical Genetics, University Hospital Muenster 0 0 1 0 0 0 0 1
Clinical Genetics Laboratory, Region Ostergotland 0 1 0 0 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 0 1 0 0 0 0 0 1
Departamento de Patología, Instituto de Genética, Universidad Nacional de Colombia 1 0 0 0 0 0 0 1
Forensic Genetics Laboratory, Harris County Institute of Forensic Sciences 1 0 0 0 0 0 0 1
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 0 0 1
Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust, North Thames Genomic Laboratory Hub 0 1 0 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 1 1
GenomeConnect, ClinGen 0 0 0 0 0 0 1 1
Genotypic Technology Pvt Ltd 0 0 1 0 0 0 0 1
Gharavi Laboratory, Columbia University 1 0 0 0 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 0 0 0 0 0 0 1
HLA Laboratory, Instituto Nacional de Enfermedades Respiratorias Ismael Cosio Villegas 0 1 1 0 0 1 0 1
Human Development and Health, University of Southampton 0 0 0 0 0 0 1 1
Human Genetics Bochum, Ruhr University Bochum 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
Institute of Human Genetics, Cologne University 0 0 1 0 0 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 0 1 0 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 1 0 0 0 0 0 0 1
Institute of Human Genetics, Medical University Innsbruck 0 0 1 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 1 0 0 0 0 0 1
MVZ Martinsried, Medicover Genetics 0 0 1 0 0 0 0 1
Medical and Scientific Branch, Hong Kong Genome Institute 0 1 0 0 0 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 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
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust 1 0 0 0 0 0 0 1
Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences 0 1 0 0 0 0 0 1
Rampazzo Lab, Human Molecular Genetics Unit, University of Padua 0 1 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 1 0 0 0 0 1
Servicio Canario de Salud, Hospital Universitario Nuestra Sra. de Candelaria 0 1 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 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
Undiagnosed Diseases Network, NIH 1 0 0 0 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 0 1 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 0 1

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