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
1064 108 996 715 447 5 2941

Condition and significance breakdown #

Total conditions: 46
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 425 21 576 382 372 1 1605
Duchenne muscular dystrophy 659 73 349 62 21 1 1154
not specified 24 1 62 284 135 0 467
Cardiovascular phenotype 1 0 53 35 46 0 135
Dilated cardiomyopathy 3B 9 2 75 36 0 0 122
See cases 34 2 11 12 1 0 60
Becker muscular dystrophy 28 4 5 0 1 0 37
Becker muscular dystrophy; Duchenne muscular dystrophy; Dilated cardiomyopathy 3B 5 0 11 0 0 0 16
Becker muscular dystrophy; Duchenne muscular dystrophy 1 0 0 0 7 2 10
Primary dilated cardiomyopathy 0 0 7 2 1 0 10
Cardiomyopathy 0 0 0 2 5 0 7
Familial dilated cardiomyopathy 0 0 6 0 0 0 6
Elevated serum creatine phosphokinase 1 4 0 0 0 0 5
Muscular dystrophy 2 2 0 1 0 0 5
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
Inborn genetic diseases 0 0 3 0 0 0 3
Intermediate muscular dystrophy 3 0 0 0 0 0 3
Familial restrictive cardiomyopathy 0 0 2 0 0 0 2
Hypertrophic cardiomyopathy 0 0 1 0 1 0 2
Left ventricular noncompaction cardiomyopathy 0 0 2 0 0 0 2
Muscular Diseases 2 0 0 0 0 0 2
Abnormality of neuronal migration 0 0 0 0 1 0 1
Autistic disorder of childhood onset 0 1 0 0 0 0 1
Becker muscular dystrophy; Dilated cardiomyopathy 3B 0 0 0 0 0 1 1
Dilated cardiomyopathy 0 0 0 0 1 0 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
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
Muscular Diseases; 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
Schizophrenia 0 1 0 0 0 0 1
X-linked DMD-related dystrophinopathy 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 66
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 375 49 336 330 210 0 1299
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 340 3 458 49 86 0 936
GeneDx 79 6 56 319 226 0 686
Mendelics 186 13 9 19 6 0 233
Athena Diagnostics Inc 107 5 20 2 39 0 173
Ambry Genetics 1 0 56 35 46 0 138
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 38 2 18 12 56 0 126
Illumina Clinical Services Laboratory,Illumina 0 0 71 36 0 0 107
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 2 0 33 24 45 0 104
OMIM 83 0 3 0 0 0 86
CeGaT Praxis fuer Humangenetik Tuebingen 0 4 49 10 0 0 63
PreventionGenetics,PreventionGenetics 0 0 0 10 26 0 36
ISCA site 1 13 1 8 10 0 0 32
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 8 8 0 0 16
Fulgent Genetics,Fulgent Genetics 4 0 10 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
Baylor Genetics 11 1 0 1 0 0 13
Quest Diagnostics Nichols Institute San Juan Capistrano 3 0 10 0 0 0 13
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
Integrated Genetics/Laboratory Corporation of America 0 0 0 0 11 0 11
CSER _CC_NCGL, University of Washington 0 1 5 3 1 0 10
Centre for Mendelian Genomics,University Medical Centre Ljubljana 5 4 1 0 0 0 10
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 4 5 0 9
ISCA site 4 6 0 1 0 0 0 7
Institute of Human Genetics,University of Wuerzburg 2 5 0 0 0 0 7
Lineagen Inc. 0 0 6 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
GenomeConnect, ClinGen 0 0 0 0 0 5 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 2 1 0 0 0 4
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 3 1 0 0 0 4
Genetic Services Laboratory, University of Chicago 0 1 1 1 0 0 3
ISCA site 6 2 0 0 0 1 0 3
Klaassen Lab,Charite University Medicine Berlin 0 0 3 0 0 0 3
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 2 0 0 0 0 2
Institute of Human Genetics,Klinikum rechts der Isar 2 0 0 0 0 0 2
Center for Genetic Medicine Research,Children's National Medical Center 0 1 1 0 0 0 2
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 0 2 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
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital,College of Medicine, The Catholic University of Korea 2 0 0 0 0 0 2
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 0 0 1 0 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 1 0 0 0 1
Department of Psychiatry,Nagoya University 0 1 0 0 0 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 Russian Research Center of Surgery, The Federal Agency for Scientific Organizations 1 0 0 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
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
Broad Institute Rare Disease Group,Broad Institute 0 1 0 0 0 0 1
Hakim Medical Genetics Center Laboratory,Neyshabur University of Medical Sciences 1 0 0 0 0 0 1
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology 1 0 0 0 0 0 1

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