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
128 125 753 453 146 2 1391

Condition and significance breakdown #

Total conditions: 61
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 48 47 223 240 116 2 627
Dilated cardiomyopathy with woolly hair and keratoderma; Arrhythmogenic right ventricular cardiomyopathy, type 8 51 10 342 27 8 0 438
not specified 1 0 157 188 74 0 381
Cardiomyopathy 1 13 100 89 49 0 239
Cardiovascular phenotype 13 2 72 64 31 0 182
Arrhythmogenic right ventricular cardiomyopathy 2 23 80 74 15 0 181
Skin fragility woolly hair syndrome 5 0 57 73 10 0 145
Epidermolysis bullosa, lethal acantholytic 4 0 57 73 10 0 144
Ectodermal dysplasia skin fragility syndrome 0 0 57 73 10 0 140
Primary dilated cardiomyopathy 2 16 15 1 0 0 34
Arrhythmogenic right ventricular cardiomyopathy, type 8 16 2 12 0 1 0 31
Primary familial hypertrophic cardiomyopathy 0 0 15 2 0 0 17
Dilated cardiomyopathy with woolly hair and keratoderma 5 1 3 0 4 0 13
Primary dilated cardiomyopathy; Arrhythmogenic right ventricular cardiomyopathy 1 12 0 0 0 0 13
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 cardiomyopathy, type 8; Epidermolysis bullosa, lethal acantholytic; Skin fragility woolly hair syndrome; Keratosis palmoplantaris striata II; Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis 1 1 6 0 0 0 8
Left ventricular noncompaction cardiomyopathy 0 0 6 0 0 0 6
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
Dilated cardiomyopathy 0 0 3 0 0 0 3
Arrhythmogenic right ventricular cardiomyopathy, type 9 0 2 0 0 0 0 2
Arrhythmogenic right ventricular dysplasia/cardiomyopathy 0 1 1 0 0 0 2
Keratosis palmoplantaris striata II 2 0 0 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
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; Amyloidosis 0 0 1 0 0 0 1
Cardiomyopathy; Dilated cardiomyopathy 0 0 0 1 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
Hypertrophic cardiomyopathy; Heart failure, systolic 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
Left ventricular noncompaction cardiomyopathy; Ventricular tachycardia 0 1 0 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 1 0 0 1 0 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
Sudden unexplained death 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
Ventricular fibrillation, idiopathic 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 52
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 63 11 342 222 69 0 707
GeneDx 47 39 163 137 84 2 472
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 2 42 124 75 45 0 288
Color 0 0 66 71 47 0 184
Ambry Genetics 13 2 72 64 31 0 182
Illumina Clinical Services Laboratory,Illumina 0 1 57 74 10 0 142
Integrated Genetics/Laboratory Corporation of America 1 5 27 20 26 0 79
Blueprint Genetics 0 12 51 4 0 0 66
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 4 33 15 5 0 57
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 0 20 17 12 0 49
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 26 16 0 0 42
Stanford Center for Inherited Cardiovascular Disease,Stanford University 1 5 30 1 1 0 38
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 2 2 21 4 7 0 36
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 9 4 13 0 27
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
Division of Genomic Diagnostics,The 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 2 5 0 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
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 1 1 3 0 1 0 6
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
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
Phosphorus, Inc. 0 0 1 0 1 0 2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 1 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
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 0 1 0 0 0 0 1
Institute of Human Genetics,Klinikum rechts der Isar 1 0 0 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
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 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
Gharavi Laboratory,Columbia University 1 0 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.