ClinVar Miner

Variants in gene DES

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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
57 37 281 107 45 55 459

Condition and significance breakdown #

Total conditions: 29
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Myofibrillar myopathy 1; Muscular dystrophy, limb-girdle, type 2R 22 6 176 33 13 0 250
not provided 21 18 114 24 8 55 211
not specified 0 0 30 53 25 0 97
Myofibrillar myopathy 1 24 9 24 11 12 0 78
Dilated cardiomyopathy 1I 3 0 25 12 6 0 45
Neurogenic scapuloperoneal syndrome, Kaeser type 1 0 11 5 25 0 42
Cardiovascular phenotype 0 0 13 11 13 0 37
Myofibrillar Myopathy, Dominant 0 0 4 12 11 0 27
Cardiomyopathy 0 1 10 3 9 0 23
Primary dilated cardiomyopathy 2 2 1 0 1 0 6
Myofibrillar myopathy 4 0 1 0 0 0 5
Arrhythmogenic right ventricular cardiomyopathy 0 3 1 0 0 0 4
Dilated Cardiomyopathy, Dominant 0 0 1 1 1 0 3
Dilated cardiomyopathy 1S 2 1 0 0 0 0 3
Primary dilated cardiomyopathy; Neuromuscular disease 0 3 0 0 0 0 3
Primary familial hypertrophic cardiomyopathy 0 1 2 0 0 0 3
Scapuloperoneal weakness 0 0 1 1 1 0 3
mitochondrial 0 0 2 0 0 0 2
Arrhythmogenic right ventricular cardiomyopathy, type 9 0 0 1 0 0 0 1
Congenital diaphragmatic hernia 0 0 1 0 0 0 1
Dilated cardiomyopathy 0 0 1 0 0 0 1
Dilated cardiomyopathy 1A 0 0 1 0 0 0 1
Dilated cardiomyopathy 1I; Myofibrillar myopathy 1; Neurogenic scapuloperoneal syndrome, Kaeser type 0 0 1 0 0 0 1
Dilated cardiomyopathy 1I; Myofibrillar myopathy 1; Neurogenic scapuloperoneal syndrome, Kaeser type; Muscular dystrophy, limb-girdle, type 2R 0 0 1 0 0 0 1
Left ventricular noncompaction cardiomyopathy 0 0 1 0 0 0 1
Muscular dystrophy, limb-girdle, type 2R 0 0 1 0 0 0 1
Myopathy; Respiratory distress; Proximal muscle weakness; Pulmonary alveolar proteinosis; Generalized hypotonia; Neonatal hypotonia; Restrictive ventilatory defect; Neonatal respiratory distress; Respiratory insufficiency due to muscle weakness; Skeletal myopathy; Interstitial pulmonary abnormality; Congenital peripheral neuropathy; Proximal muscle weakness in upper limbs; Infantile axial hypotonia 0 0 1 0 0 0 1
Primary dilated cardiomyopathy; Myofibrillar myopathy 1 1 0 0 0 0 0 1
Primary dilated cardiomyopathy; Myofibrillar myopathy 1; Neuromuscular disease 0 1 0 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 24 7 176 53 13 0 273
GeneDx 7 12 51 34 11 0 115
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 15 4 70 2 14 0 105
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 3 7 25 16 20 0 71
Epithelial Biology; Institute of Medical Biology, Singapore 0 0 0 0 0 54 54
Illumina Clinical Services Laboratory,Illumina 0 0 25 19 26 0 44
Ambry Genetics 0 0 13 11 13 0 37
OMIM 21 0 0 0 0 0 21
Athena Diagnostics Inc 2 1 7 3 7 0 20
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 0 9 3 7 0 19
PreventionGenetics,PreventionGenetics 0 0 0 1 15 0 16
Genetic Services Laboratory,University of Chicago 0 1 2 5 6 0 14
Integrated Genetics/Laboratory Corporation of America 0 0 3 2 6 0 11
Blueprint Genetics 1 3 7 0 0 0 11
CeGaT Praxis fuer Humangenetik Tuebingen 2 1 5 1 0 0 9
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 0 4 0 2 0 6
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 2 0 4 0 6
Wellcome Centre for Mitochondrial Research,Newcastle University 4 0 1 0 0 0 5
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 1 1 3 0 0 0 5
Mendelics 2 0 1 0 1 0 4
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 0 4 0 0 0 4
Erich and Hanna Klessmann Institute for Cardiovascular Research and Development,Heart and Diabetes Center North Rhine-Westphalia 2 1 1 0 0 0 4
Fulgent Genetics,Fulgent Genetics 0 0 2 0 0 0 2
Center for Genetic Medicine Research,Children's National Medical Center 0 2 0 0 0 0 2
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 2 0 0 0 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 2 0 0 0 2
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital,College of Medicine, The Catholic University of Korea 2 0 0 0 0 0 2
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego 0 2 0 0 0 0 2
Baylor Genetics 1 0 0 0 0 0 1
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 1 0 0 0 0 1
GeneReviews 1 0 0 0 0 0 1
Institute of Human Genetics,Klinikum rechts der Isar 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 0 1
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 0 1 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 1 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 1 0 0 0 0 1
Center for Human Genetics,University of Leuven 1 0 0 0 0 0 1
Undiagnosed Diseases Network,NIH 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 0 1 0 0 0 1
Phosphorus, Inc. 0 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 0 0 1 0 0 0 1
Broad Institute Rare Disease Group,Broad Institute 0 0 1 0 0 0 1

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