ClinVar Miner

Variants in gene DSP

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 not provided total
227 138 1425 694 161 2 2356

Condition and significance breakdown #

Total conditions: 67
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Dilated cardiomyopathy with woolly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 167 15 728 249 68 0 1227
Cardiomyopathy 13 18 676 412 62 0 1155
not provided 48 49 233 155 67 2 535
not specified 1 0 171 198 87 0 404
Arrhythmogenic right ventricular dysplasia 8 15 4 139 39 15 0 208
Skin fragility-woolly hair-palmoplantar keratoderma syndrome 5 1 130 39 28 0 203
Lethal acantholytic epidermolysis bullosa 4 0 129 39 28 0 200
Cardiovascular phenotype 13 2 71 65 31 0 182
Arrhythmogenic right ventricular cardiomyopathy 5 25 41 20 6 0 92
Primary dilated cardiomyopathy 1 15 22 4 0 0 42
none provided 0 0 3 8 22 0 33
Epidermolysis bullosa simplex due to plakophilin deficiency 0 0 16 10 0 0 26
Primary familial hypertrophic cardiomyopathy 0 0 15 2 0 0 17
Dilated cardiomyopathy with woolly hair and keratoderma 7 1 4 0 4 0 16
Primary dilated cardiomyopathy; Arrhythmogenic right ventricular cardiomyopathy 1 10 0 0 0 0 11
Keratosis palmoplantaris striata II 2 2 6 0 0 0 10
Primary familial dilated cardiomyopathy 0 1 8 0 0 0 9
Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis 6 0 1 0 1 0 8
Dilated cardiomyopathy with woolly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8; Lethal acantholytic epidermolysis bullosa; Skin fragility-woolly hair-palmoplantar keratoderma syndrome; Keratosis palmoplantaris striata II; Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis 1 1 6 0 0 0 8
Dilated cardiomyopathy 1A 1 1 3 2 0 0 7
Cardiomyopathy, left ventricular noncompaction 0 0 6 0 0 0 6
Cardiac arrhythmia 1 4 0 0 0 0 5
Cardiac arrest 0 1 3 0 0 0 4
Dilated cardiomyopathy 1S 0 0 3 1 0 0 4
Hypertrophic cardiomyopathy 0 0 4 0 0 0 4
Ventricular tachycardia 0 0 4 0 0 0 4
Arrhythmogenic right ventricular dysplasia 9 0 2 0 0 0 0 2
Arrhythmogenic right ventricular dysplasia, familial 1 0 0 2 0 0 0 2
Conduction disorder of the heart 1 0 1 0 0 0 2
Familial isolated arrhythmogenic right ventricular dysplasia 0 1 1 0 0 0 2
Palmoplantar blistering; Skin fragility with non-scarring blistering 0 0 2 0 0 0 2
Primary dilated cardiomyopathy; Long QT syndrome 0 1 1 0 0 0 2
Sudden unexplained death 0 0 2 0 0 0 2
Wolff-Parkinson-White pattern 0 0 2 0 0 0 2
Arrhythmogenic right ventricular cardiomyopathy; Brugada syndrome 0 0 0 0 1 0 1
Arrhythmogenic right ventricular cardiomyopathy; Sudden unexplained death 0 0 0 0 1 0 1
Cardiomyopathy, left ventricular noncompaction; Ventricular tachycardia 0 1 0 0 0 0 1
Cardiomyopathy; Amyloidosis 0 0 1 0 0 0 1
Cardiomyopathy; Hypertrophic cardiomyopathy 0 0 0 0 1 0 1
Cardiomyopathy; Long QT syndrome; Hypertrophic cardiomyopathy 0 0 0 0 1 0 1
Catecholaminergic polymorphic ventricular tachycardia type 1 0 0 1 0 0 0 1
Collapse (finding) 0 0 1 0 0 0 1
DSP-Related Disorders 0 1 0 0 0 0 1
DSP-related arrhythmogenic cardiomyopathy 1 0 0 0 0 0 1
Familial restrictive cardiomyopathy 0 0 1 0 0 0 1
Global developmental delay 1 0 0 0 0 0 1
Hypertrophic cardiomyopathy; Systolic heart failure 0 0 0 0 1 0 1
Left ventricular hypertrophy 0 0 1 0 0 0 1
Left ventricular noncompaction 0 0 1 0 0 0 1
Long QT syndrome 0 0 1 0 0 0 1
Long QT syndrome 1 1 0 0 0 0 0 1
Long QT syndrome; Hypertrophic cardiomyopathy; Ventricular tachycardia 0 0 0 0 1 0 1
Marfanoid habitus and intellectual disability 0 0 1 0 0 0 1
Paroxysmal familial ventricular fibrillation 0 0 1 0 0 0 1
Paroxysmal familial ventricular fibrillation 1 0 0 1 0 0 0 1
Primary dilated cardiomyopathy; Cardiomyopathy 0 0 0 1 0 0 1
Primary dilated cardiomyopathy; Migraine; Hemiplegia 0 0 1 0 0 0 1
Progressive familial heart block 0 1 0 0 0 0 1
Restrictive cardiomyopathy 0 0 0 1 0 0 1
Restrictive cardiomyopathy; Long QT syndrome 0 0 1 0 0 0 1
Right ventricular cardiomyopathy 0 1 0 0 0 0 1
Subvalvular aortic stenosis 0 0 1 0 0 0 1
Sudden cardiac death; Arrhythmia; Ventricular fibrillation; Aortic dilatation; Bicuspid aortic valve 1 0 0 0 0 0 1
Sudden death 0 0 1 0 0 0 1
Syncope; Paroxysmal atrial fibrillation; Right ventricular dilatation; Left ventricular failure; Ventricular tachycardia 0 0 1 0 0 0 1
Ventricular arrhythmia; Right ventricular cardiomyopathy 0 1 0 0 0 0 1
Ventricular fibrillation 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 62
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 169 15 728 298 69 0 1279
Color Health, Inc 11 3 653 393 54 0 1114
GeneDx 47 39 163 137 84 2 472
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 4 41 121 78 46 0 290
Illumina Clinical Services Laboratory,Illumina 0 1 132 51 28 0 199
Ambry Genetics 13 2 71 65 31 0 182
Integrated Genetics/Laboratory Corporation of America 2 9 43 28 45 0 127
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 1 6 45 26 16 0 94
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 35 34 0 0 69
Blueprint Genetics 0 12 51 4 0 0 66
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 4 3 29 10 15 0 61
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 0 20 17 12 0 49
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 1 0 12 11 23 0 47
Stanford Center for Inherited Cardiovascular Disease,Stanford University 1 5 30 1 1 0 38
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego 0 3 8 9 5 0 25
OMIM 22 0 2 0 0 0 24
PreventionGenetics, PreventionGenetics 0 0 0 4 20 0 24
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 1 0 10 5 5 0 21
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 13 4 3 0 20
CSER _CC_NCGL, University of Washington 0 1 7 5 0 0 13
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 3 9 0 0 0 13
Baylor Genetics 2 2 5 0 0 0 9
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 1 7 0 0 0 8
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 1 1 5 0 1 0 8
Institute of Human Genetics, University of Leipzig Medical Center 1 0 5 2 0 0 8
Fulgent Genetics,Fulgent Genetics 1 0 6 0 0 0 7
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 5 2 0 7
Genetics and Genomics Program,Sidra Medicine 0 0 2 3 0 0 5
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 4 0 0 0 4
Mendelics 1 0 0 0 3 0 4
Erich and Hanna Klessmann Institute for Cardiovascular Research and Development,Heart and Diabetes Center North Rhine-Westphalia 0 0 3 1 0 0 4
Division of Human Genetics,Children's Hospital of Philadelphia 0 1 2 0 0 0 3
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 3 0 0 0 3
Center for Human Genetics,University of Leuven 0 0 3 0 0 0 3
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 3 0 0 0 3
Klaassen Lab,Charite University Medicine Berlin 0 0 3 0 0 0 3
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 2 0 0 0 2
Heart Center,Academic Medical Center Amsterdam 0 2 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 0 2 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 0 0 0 0 0 2
Phosphorus, Inc. 0 0 1 0 1 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 2 0 0 0 0 2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 1 0 0 0 2
Loeys Lab,Universiteit Antwerpen 0 0 2 0 0 0 2
Strand Center for Genomics and Personalized Medicine,Strand Life Sciences Pvt Ltd 0 1 0 0 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 0 1
Institute of Human Genetics, Klinikum rechts der Isar 1 0 0 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 0 1 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 1 0 0 0 0 1
Forensic Genetics Laboratory,Harris County Institute of Forensic Sciences 1 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Institute of Molecular Biology and Genetics, Federal Almazov North-West Medical Research Centre 0 1 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 0 1 0 0 0 1
Institute of Human Genetics,University of Wuerzburg 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 1
Undiagnosed Diseases Network,NIH 1 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 1 0 0 0 1
Rampazzo Lab, Human Molecular Genetics Unit,University of Padua 0 1 0 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 0 0 0 0 0 1
Broad Institute Rare Disease Group, Broad Institute 0 0 0 1 0 0 1
Gharavi Laboratory,Columbia University 1 0 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 1 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.