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
52 34 214 101 32 54 389

Condition and significance breakdown #

Total conditions: 27
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 21 17 113 48 19 54 229
Myofibrillar myopathy 1; Muscular dystrophy, limb-girdle, type 2R 12 3 109 7 2 0 133
not specified 0 0 31 51 25 0 97
Myofibrillar myopathy 1 24 10 7 12 12 0 63
Cardiovascular phenotype 0 0 13 11 13 0 37
Dilated Cardiomyopathy, Dominant 0 0 4 12 11 0 27
Myofibrillar Myopathy, Dominant 0 0 4 12 11 0 27
Scapuloperoneal weakness 0 0 4 12 11 0 27
Cardiomyopathy 0 1 7 4 4 0 16
Myofibrillar myopathy 4 0 1 0 0 0 5
Primary dilated cardiomyopathy 2 1 1 0 1 0 5
Arrhythmogenic right ventricular cardiomyopathy 0 3 1 0 0 0 4
Dilated cardiomyopathy 1I 2 0 2 0 0 0 4
Dilated cardiomyopathy 1S 2 1 0 0 0 0 3
Primary dilated cardiomyopathy; Neuromuscular Diseases 0 3 0 0 0 0 3
Primary familial hypertrophic cardiomyopathy 0 1 2 0 0 0 3
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 1I; Myofibrillar myopathy 1; Scapuloperoneal syndrome, neurogenic, Kaeser type 0 0 1 0 0 0 1
Dilated cardiomyopathy 1I; Myofibrillar myopathy 1; Scapuloperoneal syndrome, neurogenic, 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 Diseases; 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
Muscular dystrophy, limb-girdle, type 2R 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 Diseases 0 1 0 0 0 0 1
Scapuloperoneal syndrome, neurogenic, Kaeser type 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 41
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 14 5 109 53 13 0 194
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 26 15 20 0 71
Epithelial Biology; Institute of Medical Biology, Singapore 0 0 0 0 0 54 54
Ambry Genetics 0 0 13 11 13 0 37
Illumina Clinical Services Laboratory,Illumina 0 0 4 12 11 0 27
OMIM 20 0 0 0 0 0 20
Athena Diagnostics Inc 2 1 7 3 7 0 20
PreventionGenetics,PreventionGenetics 0 0 0 1 15 0 16
Genetic Services Laboratory, University of Chicago 0 1 2 5 6 0 14
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 0 6 4 2 0 12
Blueprint Genetics 1 3 7 0 0 0 11
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
Integrated Genetics/Laboratory Corporation of America 0 0 2 0 4 0 6
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 5 1 0 0 6
Wellcome Centre for Mitochondrial Research,Newcastle University 4 0 1 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 Russian Research Center of Surgery, The Federal Agency for Scientific Organizations 2 0 0 0 0 0 2
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 1 1 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
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
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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