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
807 82 881 438 230 4 2170

Condition and significance breakdown #

Total conditions: 38
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Duchenne muscular dystrophy 480 46 255 129 139 0 1040
not provided 422 18 534 9 50 1 1028
not specified 15 0 60 277 127 0 442
Becker muscular dystrophy 166 3 4 1 1 0 174
Cardiovascular phenotype 1 0 53 35 46 0 135
Dilated cardiomyopathy 3B 24 0 74 36 0 0 134
See cases 34 2 11 12 1 0 60
Becker muscular dystrophy; Duchenne muscular dystrophy; Dilated cardiomyopathy 3B 5 0 11 0 0 0 16
Becker muscular dystrophy; Duchenne muscular dystrophy 2 0 0 0 7 2 11
Primary dilated cardiomyopathy 0 0 7 2 1 0 10
Elevated serum creatine phosphokinase 1 4 0 0 0 0 5
Muscular dystrophy 2 1 0 1 0 0 4
Primary familial hypertrophic cardiomyopathy 0 0 4 0 0 0 4
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
Arrhythmogenic right ventricular cardiomyopathy 0 0 2 0 0 0 2
Autistic disorder of childhood onset 0 2 0 0 0 0 2
Left ventricular noncompaction cardiomyopathy 0 0 2 0 0 0 2
Schizophrenia 0 2 0 0 0 0 2
Abnormality of neuronal migration 0 0 0 0 1 0 1
Autism spectrum disorder 0 1 0 0 0 0 1
Becker muscular dystrophy; Dilated cardiomyopathy 3B 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
Familial dilated cardiomyopathy 0 0 1 0 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 1 0 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

Submitter and significance breakdown #

Total submitters: 56
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 340 3 458 49 86 0 936
Invitae 267 38 249 128 135 0 817
GeneDx 79 6 56 242 82 0 465
Athena Diagnostics Inc 103 3 16 0 30 0 152
Ambry Genetics 1 0 56 35 46 0 138
Illumina Clinical Services Laboratory,Illumina 0 0 71 36 0 0 107
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 2 0 34 19 41 0 96
OMIM 83 0 3 0 0 0 86
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 31 1 11 6 34 0 83
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
CeGaT Praxis fuer Humangenetik Tuebingen 0 3 16 0 0 0 19
Fulgent Genetics 4 0 10 0 0 0 14
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 Medical Center 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
Baylor Miraca Genetics Laboratories, 7 0 0 0 0 0 7
ISCA site 4 6 0 1 0 0 0 7
Phosphorus, Inc. 0 0 0 0 6 0 6
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories, Inc. 3 1 0 1 0 0 5
Institute of Human Genetics,University of Wuerzburg 1 4 0 0 0 0 5
Department of Psychiatry,Nagoya University 0 4 0 0 0 0 4
Genomic Research Center,Shahid Beheshti University of Medical Sciences 1 2 1 0 0 0 4
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 0 3 1 0 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 4 4
Genetic Services Laboratory, University of Chicago 0 1 1 1 0 0 3
ISCA site 6 2 0 0 0 1 0 3
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 0 1 2 0 0 3
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
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
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 2 0 0 0 0 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
Institute of Human Genetics,Klinikum rechts der Isar 1 0 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
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
GenePathDx,Causeway Health Care Private Ltd 0 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 1 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
Laboratoire de Cytogenetique,Hospices Civils de Lyon 0 0 1 0 0 0 1
Liping Wei Laboratory,Peking University 0 1 0 0 0 0 1
Hakim Medical Genetics Center Laboratory,Neyshabur University of Medical Sciences 1 0 0 0 0 0 1

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