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 not provided total
113 107 679 348 98 2 1158

Condition and significance breakdown #

Total conditions: 47
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Dilated cardiomyopathy with woolly hair and keratoderma; Arrhythmogenic right ventricular cardiomyopathy, type 8 33 8 263 113 62 0 479
not specified 0 0 158 182 72 0 371
not provided 47 40 204 26 18 2 328
Cardiomyopathy 2 19 97 84 49 0 241
Cardiovascular phenotype 13 2 74 64 29 0 182
Arrhythmogenic right ventricular cardiomyopathy 0 19 80 74 15 0 175
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
Arrhythmogenic right ventricular cardiomyopathy, type 8 19 2 12 0 1 0 34
Primary dilated cardiomyopathy 1 16 13 1 0 0 31
Primary familial hypertrophic cardiomyopathy 0 0 15 2 0 0 17
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
Dilated cardiomyopathy with woolly hair and keratoderma 3 0 2 0 1 0 6
Familial dilated cardiomyopathy 0 0 6 0 0 0 6
Left ventricular noncompaction cardiomyopathy 0 0 5 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 3 0 0 0 3
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; Sudden unexplained death 0 0 0 0 1 0 1
Cardiomyopathy; Amyloidosis 0 0 1 0 0 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
Dilated cardiomyopathy 0 0 1 0 0 0 1
Left ventricular hypertrophy 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
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; 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
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
Ventricular tachycardia 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 44
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 50 9 263 113 62 0 497
GeneDx 46 32 163 119 38 2 400
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 2 36 126 70 42 0 276
Color 0 0 66 71 47 0 184
Ambry Genetics 13 2 74 64 29 0 182
Illumina Clinical Services Laboratory,Illumina 0 1 57 74 10 0 142
Integrated Genetics/Laboratory Corporation of America 1 5 30 17 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/Human Development Section,National Institutes of Health 0 0 20 17 12 0 49
Stanford Center for Inherited Cardiovascular Disease,Stanford University 1 5 30 1 1 0 38
OMIM 22 0 2 0 0 0 24
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
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 1 14 0 2 0 17
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 1 0 8 3 4 0 16
CSER_CC_NCGL; University of Washington Medical Center 0 1 7 5 0 0 13
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 2 5 0 0 0 8
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
Erich and Hanna Klessmann Institute for Cardiovascular Research and Development,Heart and Diabetes Center North Rhine-Westphalia 0 0 3 1 0 0 4
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 3 0 0 0 3
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
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 0 0 1 0 1 0 2
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 0 0 2 0 0 0 2
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 2 0 0 0 2
Phosphorus, Inc. 0 0 1 0 1 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
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
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 0 0 1 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

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