ClinVar Miner

Variants in gene DMD

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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
1528 230 1499 959 461 7 4227

Condition and significance breakdown #

Total conditions: 54
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Duchenne muscular dystrophy 1088 137 834 546 216 1 2796
not provided 452 25 602 218 197 1 1449
not specified 24 2 91 290 147 0 505
Dilated cardiomyopathy 3B 17 4 152 32 38 0 242
Cardiovascular phenotype 1 0 40 44 50 0 135
none provided 7 1 7 4 45 0 64
Dystrophinopathies 48 14 0 0 0 0 62
See cases 34 2 11 12 1 0 60
Dystrophin deficiency 6 0 31 11 5 0 53
Becker muscular dystrophy; Duchenne muscular dystrophy 1 38 0 0 7 3 49
Becker muscular dystrophy 29 3 10 0 1 0 42
Becker muscular dystrophy; Duchenne muscular dystrophy; Dilated cardiomyopathy 3B 5 0 11 0 0 0 16
Primary dilated cardiomyopathy 0 0 8 6 1 0 14
Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 0 0 4 4 1 0 9
Cardiomyopathy 0 0 0 2 5 0 7
Elevated serum creatine phosphokinase 1 5 0 0 0 0 6
Muscular dystrophy 3 2 0 1 0 0 6
Primary familial dilated cardiomyopathy 0 0 6 0 0 0 6
Primary familial hypertrophic cardiomyopathy 0 0 5 0 0 0 5
Arrhythmogenic right ventricular cardiomyopathy 0 0 3 0 0 0 3
Becker muscular dystrophy, atypical 3 0 0 0 0 0 3
Colorectal cancer 3 0 0 0 0 0 3
Dilated cardiomyopathy 1A 0 0 2 1 0 0 3
Inborn genetic diseases 0 1 2 0 0 0 3
Intermediate muscular dystrophy 3 0 0 0 0 0 3
Autistic disorder of childhood onset 0 2 0 0 0 0 2
Cardiomyopathy, left ventricular noncompaction 0 0 2 0 0 0 2
Conduction disorder of the heart 0 0 2 0 0 0 2
Familial restrictive cardiomyopathy 0 0 2 0 0 0 2
Hypertrophic cardiomyopathy 0 0 1 0 1 0 2
Myopathy 2 0 0 0 0 0 2
Schizophrenia 0 2 0 0 0 0 2
Abnormality of neuronal migration 0 0 0 0 1 0 1
Becker muscular dystrophy; Dilated cardiomyopathy 3B 0 0 0 0 0 1 1
DMD-Related Disorder 0 0 0 0 0 1 1
Duchenne muscular dystrophy, mental retardation, and absence of erg b-wave 1 0 0 0 0 0 1
EMG: myopathic abnormalities; Shoulder girdle muscle weakness 0 0 1 0 0 0 1
Elevated serum creatine phosphokinase; Atrial septal defect 1 0 0 0 0 0 1
Elevated serum creatine phosphokinase; Progressive proximal muscle weakness 0 1 0 0 0 0 1
Exertional myalgia, muscle stiffness and myoglobinuria 0 0 1 0 0 0 1
Heart failure 0 0 0 1 0 0 1
Intellectual disability 0 0 1 0 0 0 1
Long QT syndrome 0 0 0 0 1 0 1
Long QT syndrome; Brugada syndrome 0 0 0 1 0 0 1
MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD 1 0 0 0 0 0 1
Motor delay; Calf muscle hypertrophy; Proximal muscle weakness in lower limbs 1 0 0 0 0 0 1
Motor delay; Muscle weakness; Muscle cramps; EMG abnormality; EMG: myopathic abnormalities; Calf muscle hypertrophy 1 0 0 0 0 0 1
Muscle dystrophy 0 1 0 0 0 0 1
Myopathy; Short stature; EMG: myopathic abnormalities; Exercise-induced muscle cramps; Exercise-induced myalgia; Decreased body weight; Exercise-induced muscle stiffness; Exercise-induced muscle fatigue; Exercise-induced rhabdomyolysis 0 1 0 0 0 0 1
Pectus excavatum; Cardiomyopathy; Ptosis; Clinodactyly of the 5th finger; Proptosis 0 1 0 0 0 0 1
Premature ovarian failure 0 0 0 0 1 0 1
Primary dilated cardiomyopathy; Progressive muscle weakness; Calf muscle hypertrophy; Abnormal muscle fiber dystrophin expression 1 0 0 0 0 0 1
Restrictive cardiomyopathy 0 0 0 0 1 0 1
X-linked DMD-related dystrophinopathy 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 89
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 806 106 817 585 213 0 2526
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 340 3 458 49 86 0 936
GeneDx 88 7 55 319 226 0 695
Mendelics 186 13 9 19 6 0 233
Illumina Clinical Services Laboratory,Illumina 2 1 140 31 38 0 212
Athena Diagnostics Inc 108 5 27 2 40 0 182
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 45 3 25 16 68 0 157
Integrated Genetics/Laboratory Corporation of America 47 13 31 7 51 0 149
Ambry Genetics 1 1 42 44 50 0 138
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 2 0 32 27 46 0 107
CeGaT Praxis fuer Humangenetik Tuebingen 11 8 61 21 0 0 101
OMIM 83 0 3 0 0 0 86
Natera, Inc. 6 0 34 15 6 0 61
Myriad Women's Health, Inc. 0 38 0 0 0 0 38
PreventionGenetics, PreventionGenetics 0 0 0 10 26 0 36
ISCA site 1 13 1 8 10 0 0 32
Quest Diagnostics Nichols Institute San Juan Capistrano 14 0 15 0 0 0 29
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 3 0 5 0 19 0 27
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 0 12 14 1 0 27
Centre for Mendelian Genomics,University Medical Centre Ljubljana 11 5 7 1 0 0 24
Baylor Genetics 12 1 7 1 0 0 21
Fulgent Genetics,Fulgent Genetics 4 0 10 0 0 0 14
Centro de Genética y Biología Molecular, Universidad de San Martín de Porres 11 3 0 0 0 0 14
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego 0 0 1 4 9 0 14
Blueprint Genetics 0 0 13 0 0 0 13
Stanford Center for Inherited Cardiovascular Disease, Stanford University 2 0 10 1 0 0 13
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 12 0 0 0 0 0 12
CSER _CC_NCGL, University of Washington 0 1 5 3 1 0 10
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 4 5 0 9
Institute of Human Genetics,University of Wuerzburg 2 6 0 0 0 0 8
Institute of Human Genetics, University of Leipzig Medical Center 2 1 4 0 1 0 8
ISCA site 4 6 0 1 0 0 0 7
GenomeConnect, ClinGen 0 0 0 0 0 7 7
Lineagen, Inc 0 0 6 0 0 0 6
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 2 3 1 0 0 0 6
Phosphorus, Inc. 0 0 0 0 6 0 6
ARUP Laboratories, Cytogenetics and Genomic Microarray,ARUP Laboratories 3 1 0 1 0 0 5
Counsyl 2 2 1 0 0 0 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 0 1 0 2 0 5
Department of Psychiatry,Nagoya University 0 4 0 0 0 0 4
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 4 0 0 0 4
Genetics and Genomics Program,Sidra Medicine 0 0 0 4 0 0 4
Genetic Services Laboratory, University of Chicago 0 1 1 1 0 0 3
Institute of Human Genetics, Klinikum rechts der Isar 3 0 0 0 0 0 3
ISCA site 6 2 0 0 0 1 0 3
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 3 0 0 0 3
Neuromuscular Diagnostic Laboratory,American University of Beirut Medical Center 3 0 0 0 0 0 3
Klaassen Lab,Charite University Medicine Berlin 0 0 3 0 0 0 3
Genomic Center,National Cancer Institute 3 0 0 0 0 0 3
Centogene AG - the Rare Disease Company 1 1 0 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 1 0 1 0 0 0 2
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 2 0 0 0 0 2
Center for Genetic Medicine Research,Children's National Medical Center 0 1 1 0 0 0 2
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 0 1 0 2
Tehran Medical Genetics Laboratory 0 2 0 0 0 0 2
Broad Institute Rare Disease Group, Broad Institute 0 2 0 0 0 0 2
Consultorio y Laboratorio de Neurogenética,Hospital JM Ramos Mejia 2 0 0 0 0 0 2
Coyote Medical Laboratory (Beijing),Coyote 2 0 0 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
Department of Obstetrics, Zhejiang Provincial People's Hospital, Zhejiang Provincial People's Hospital 0 2 0 0 0 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 0 0 1 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
ISCA site 2 1 0 0 0 0 0 1
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 0 0 1 0 0 0 1
Génétique et pathophysiologie de maladies neurodéveloppementales et épileptogènes, Institut de génétique et de biologie moléculaire et cellulaire 0 0 0 0 1 0 1
Department of Biotechnology,Institute of Molecular and Cell Biology, University of Tartu 0 0 0 0 1 0 1
Laboratory Genomica,Gynecology and Assisted Reproduction Hospital Malinov DM 1 0 0 0 0 0 1
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 1 0 0 0 0 0 1
Diagnostic Laboratory, Strasbourg University Hospital 0 0 1 0 0 0 1
GenePathDx,Causeway Health Care Private Ltd 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 0 1 0 0 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 1 0 0 0 0 0 1
Rare Disease Group, Clinical Genetics,Karolinska Institutet 0 1 0 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 1 0 0 0 0 0 1
Emory University School of Medicine, Department of Human Genetics,Emory University 0 1 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 0 0 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 0 1 0 0 0 1
Hakim Medical Genetics Center Laboratory,Neyshabur University of Medical Sciences 1 0 0 0 0 0 1
SavaGenome Genetic Health Clinic 1 0 0 0 0 0 1
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology 1 0 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
Nilou-Genome Lab 0 0 0 1 0 0 1
MNM Diagnostics 1 0 0 0 0 0 1
Centro de Registro e Investigacion sobre Anomalias Congenitas,Hospital Civil de Guadalajara Dr. Juan I. Menchaca 1 0 0 0 0 0 1
Pars Genome Lab 0 0 1 0 0 0 1
Department of Neurogenetics,Institute for Communicative and Cognitive Neurosciences 1 0 0 0 0 0 1

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