ClinVar Miner

Variants in gene DMD

See also:
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 pathogenic, low penetrance not provided total
2291 542 2926 3515 774 1 14 8992

Condition and significance breakdown #

Total conditions: 59
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign pathogenic, low penetrance not provided total
Duchenne muscular dystrophy 1722 287 1802 2941 398 1 1 7106
not provided 598 98 887 410 441 0 1 2262
Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 31 8 568 482 66 0 0 1155
Cardiovascular phenotype 17 2 465 381 95 0 0 960
not specified 29 4 159 260 157 0 0 551
Dilated cardiomyopathy 3B 19 5 163 32 44 0 0 262
Becker muscular dystrophy 118 31 21 0 1 0 0 169
Qualitative or quantitative defects of dystrophin 104 56 1 0 0 0 1 161
Becker muscular dystrophy; Duchenne muscular dystrophy; Dilated cardiomyopathy 3B 9 2 109 25 6 0 1 149
DMD-related condition 3 1 16 81 9 0 0 110
Becker muscular dystrophy; Duchenne muscular dystrophy 4 61 1 0 7 0 6 78
Dystrophin deficiency 6 0 31 11 5 0 0 53
See cases 25 2 12 6 1 0 0 46
Abnormality of the musculature 15 7 0 0 0 0 0 22
Primary dilated cardiomyopathy 0 0 9 6 1 0 0 15
Elevated circulating creatine kinase concentration 3 9 2 0 0 0 0 14
Muscular dystrophy 4 4 0 1 0 0 0 9
Cardiomyopathy 0 0 0 2 5 0 0 7
Duchenne and Becker muscular dystrophy 2 1 3 0 0 0 0 6
Primary familial dilated cardiomyopathy 0 0 6 0 0 0 0 6
Inborn genetic diseases 0 1 4 0 0 0 0 5
Primary familial hypertrophic cardiomyopathy 0 0 5 0 0 0 0 5
Arrhythmogenic right ventricular cardiomyopathy 0 0 3 0 0 0 0 3
Becker muscular dystrophy, atypical 3 0 0 0 0 0 0 3
Colorectal cancer 3 0 0 0 0 0 0 3
Dilated cardiomyopathy 1A 0 0 2 1 0 0 0 3
Intermediate muscular dystrophy 3 0 0 0 0 0 0 3
Myopathy 2 1 0 0 0 0 0 3
Autism 0 2 0 0 0 0 0 2
Color vision defect 0 0 0 0 0 0 2 2
Conduction disorder of the heart 0 0 2 0 0 0 0 2
Familial restrictive cardiomyopathy 0 0 2 0 0 0 0 2
Hypertrophic cardiomyopathy 0 0 1 0 1 0 0 2
Left ventricular noncompaction cardiomyopathy 0 0 2 0 0 0 0 2
Abnormality of neuronal migration 0 0 0 0 1 0 0 1
Becker muscular dystrophy; Dilated cardiomyopathy 3B 0 0 0 0 0 0 1 1
DMD-Related Disorder 0 0 0 0 0 0 1 1
Dystrophinopathy 1 0 0 0 0 0 0 1
EMG: myopathic abnormalities; Shoulder girdle muscle weakness 0 0 1 0 0 0 0 1
Elevated circulating creatine kinase concentration; Atrial septal defect 1 0 0 0 0 0 0 1
Elevated circulating creatine kinase concentration; Progressive proximal muscle weakness 0 1 0 0 0 0 0 1
Exertional myalgia, muscle stiffness and myoglobinuria 0 0 1 0 0 0 0 1
Heart failure 0 0 0 1 0 0 0 1
Highly elevated creatine kinase 1 0 0 0 0 0 0 1
Intellectual disability 0 0 1 0 0 0 0 1
Long QT syndrome 0 0 0 0 1 0 0 1
Long QT syndrome; Brugada syndrome 0 0 0 1 0 0 0 1
Motor delay; Calf muscle hypertrophy; Proximal muscle weakness in lower limbs 1 0 0 0 0 0 0 1
Motor delay; Muscle weakness; Muscle spasm; EMG abnormality; EMG: myopathic abnormalities; Calf muscle hypertrophy 1 0 0 0 0 0 0 1
Muscle dystrophy 0 1 0 0 0 0 0 1
Muscular atrophy 1 0 0 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 0 1
Pectus excavatum; Cardiomyopathy; Ptosis; Clinodactyly of the 5th finger; Proptosis 0 1 0 0 0 0 0 1
Premature ovarian failure 0 0 0 0 1 0 0 1
Primary dilated cardiomyopathy; Progressive muscle weakness; Calf muscle hypertrophy; Abnormal muscle fiber dystrophin expression 1 0 0 0 0 0 0 1
Proximal muscle weakness; Highly elevated creatine kinase 0 1 0 0 0 0 0 1
Restrictive cardiomyopathy 0 0 0 0 1 0 0 1
Schizophrenia 0 0 1 0 0 0 0 1
X-linked DMD-related dystrophinopathy 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 137
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign pathogenic, low penetrance not provided total
Invitae 1445 187 1764 2929 393 1 0 6719
Natera, Inc. 37 8 598 493 71 0 0 1207
GeneDx 123 14 121 450 441 0 0 1149
Ambry Genetics 17 3 469 381 95 0 0 964
Eurofins Ntd Llc (ga) 340 3 458 49 86 0 0 936
Revvity Omics, Revvity 140 57 249 1 0 0 0 447
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 102 54 85 33 67 0 0 341
Mendelics 262 14 24 17 7 0 0 324
Illumina Laboratory Services, Illumina 5 2 141 31 38 0 0 217
Athena Diagnostics Inc 115 6 44 3 46 0 0 212
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 51 4 32 27 75 0 0 189
CeGaT Center for Human Genetics Tuebingen 26 12 54 69 2 0 0 163
PreventionGenetics, part of Exact Sciences 3 1 16 90 35 0 0 145
Fulgent Genetics, Fulgent Genetics 8 2 104 25 6 0 0 145
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 67 38 6 0 0 0 0 110
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 32 27 46 0 0 106
OMIM 81 0 3 0 0 0 0 84
Quest Diagnostics Nichols Institute San Juan Capistrano 39 2 23 0 0 0 0 64
Myriad Genetics, Inc. 0 61 0 0 0 0 0 61
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 5 38 15 0 0 59
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 0 4 25 19 0 0 49
Baylor Genetics 16 21 7 1 0 0 0 45
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 5 27 9 0 0 41
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 4 15 17 0 0 36
3billion 13 11 7 0 0 0 0 31
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center 3 0 5 0 19 0 0 27
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 0 0 12 14 1 0 0 27
Genome-Nilou Lab 2 0 7 2 15 0 0 26
ISCA site 1 10 1 8 5 0 0 0 24
Centre for Mendelian Genomics, University Medical Centre Ljubljana 11 5 7 1 0 0 0 24
Institute of Human Genetics, University of Wuerzburg 8 13 2 0 0 0 0 23
Kariminejad - Najmabadi Pathology & Genetics Center 15 7 0 0 0 0 0 22
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 7 8 5 0 0 0 0 20
Mayo Clinic Laboratories, Mayo Clinic 4 1 13 0 0 0 0 18
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories 9 3 5 0 0 0 0 17
Clinical Genetics, Academic Medical Center 0 0 0 1 16 0 0 17
Institute of Human Genetics, University of Leipzig Medical Center 5 4 6 0 1 0 0 16
MGZ Medical Genetics Center 3 5 6 0 0 0 0 14
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 6 0 8 0 0 0 0 14
Centro de Genética y Biología Molecular, Universidad de San Martín de Porres 11 3 0 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 0 14
Blueprint Genetics 0 0 13 0 0 0 0 13
Stanford Center for Inherited Cardiovascular Disease, Stanford University 2 0 10 1 0 0 0 13
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 12 0 0 0 0 0 0 12
CSER _CC_NCGL, University of Washington 0 1 5 3 1 0 0 10
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 4 5 2 0 0 0 0 10
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 4 5 0 0 9
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 4 3 1 0 0 0 0 8
GenomeConnect, ClinGen 0 0 0 0 0 0 8 8
Genetic Services Laboratory, University of Chicago 1 1 1 2 2 0 0 7
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 1 0 6 0 0 0 0 7
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 3 0 3 0 0 0 0 6
Bionano Laboratories 0 0 6 0 0 0 0 6
Phosphorus, Inc. 0 0 0 0 6 0 0 6
Institute of Human Genetics, University Hospital Muenster 6 0 0 0 0 0 0 6
AiLife Diagnostics, AiLife Diagnostics 0 1 5 0 0 0 0 6
Counsyl 2 2 1 0 0 0 0 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 0 1 0 2 0 0 5
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 2 2 1 0 0 5
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 5 0 0 0 0 0 0 5
Garshasbi Lab, Tarbiat Modares University 0 5 0 0 0 0 0 5
Pars Genome Lab 0 0 2 0 3 0 0 5
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 3 1 0 0 0 0 0 4
ISCA site 4 3 0 1 0 0 0 0 4
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 4 0 0 0 0 4
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 4 0 0 0 0 4
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 3 1 0 0 0 0 0 4
Genetics and Genomics Program, Sidra Medicine 0 0 0 4 0 0 0 4
ISCA Site 6 2 0 0 0 1 0 0 3
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 3 0 0 0 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 3 0 0 0 0 0 0 3
Neuromuscular Diagnostic Laboratory, American University of Beirut Medical Center 3 0 0 0 0 0 0 3
Klaassen Lab, Charite University Medicine Berlin 0 0 3 0 0 0 0 3
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 3 0 0 0 0 0 0 3
Genomic Center, National Cancer Institute 3 0 0 0 0 0 0 3
New York Genome Center 0 0 3 0 0 0 0 3
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 3 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 1 1 0 0 0 0 3
Centogene AG - the Rare Disease Company 1 1 0 0 0 0 0 2
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 0 2 0 0 0 0 0 2
Department of Psychiatry, Nagoya University 0 2 0 0 0 0 0 2
Center for Genetic Medicine Research, Children's National Medical Center 0 1 1 0 0 0 0 2
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 1 0 0 2
Tehran Medical Genetics Laboratory 0 2 0 0 0 0 0 2
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia 2 0 0 0 0 0 0 2
Laboratorio de Biologia Molecular - Genetica, Hospital de Pediatria Garrahan 2 0 0 0 0 0 0 2
Coyote Medical Laboratory (Beijing), Coyote 2 0 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 0 2
Center of Excellence for Medical Genomics, Chulalongkorn University 2 0 0 0 0 0 0 2
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 2 0 0 0 0 2
Department of Obstetrics, Zhejiang Provincial People's Hospital, Zhejiang Provincial People's Hospital 0 2 0 0 0 0 0 2
Lifecell International Pvt. Ltd 1 1 0 0 0 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 1 0 0 0 0 2
Phenosystems SA 0 0 0 0 0 0 2 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 0 0 1 0 0 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 0 1 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 0 1
ISCA site 2 1 0 0 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 1 0 0 0 0 0 0 1
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute 0 0 1 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 0 1
Department of Biotechnology, Institute of Molecular and Cell Biology, University of Tartu 0 0 0 0 1 0 0 1
Laboratory Genomica, Gynecology and Assisted Reproduction Hospital Malinov DM 1 0 0 0 0 0 0 1
Center for Comprehensive Genetic Services, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 0 1
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 1 0 0 0 0 0 0 1
Diagnostic Laboratory, Strasbourg University Hospital 0 0 1 0 0 0 0 1
GenePathDx, GenePath diagnostics 0 0 1 0 0 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 1 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 1 0 0 0 0 0 0 1
Rare Disease Group, Clinical Genetics, Karolinska Institutet 0 1 0 0 0 0 0 1
Emory University School of Medicine, Department of Human Genetics, Emory University 0 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 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 0 0 1
Laboratory of Functional Genomics, Research Centre for Medical Genetics 0 1 0 0 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 0 1 0 0 0 0 1
Hakim Medical Genetics Center Laboratory, Neyshabur University of Medical Sciences 1 0 0 0 0 0 0 1
Savagenome Genetic Health Clinic, Tarbiat Modares University 1 0 0 0 0 0 0 1
MNM Diagnostics 1 0 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 0 1
Tianjin Key Laboratory of Birth Defects for Prevention and Treatment, Tianjin Children’s Hospital 1 0 0 0 0 0 0 1
Department of Medical Laboratory, Affiliated Hospital of Southwest Medical University 1 0 0 0 0 0 0 1
Department of Neurogenetics, Institute for Communicative and Cognitive Neurosciences 1 0 0 0 0 0 0 1
KTest Genetics, KTest 1 0 0 0 0 0 0 1
Kids Neuroscience Centre, Sydney Children's Hospitals Network 0 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 1 1
Clinical Center for Gene Diagnosis and Therapy, Department of Cardiovascular Surgery, The Second Xiangya Hospital of Central South University 0 0 1 0 0 0 0 1
Suma Genomics 1 0 0 0 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 0 1
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 1 0 0 0 0 0 0 1
Unidade de Genética Molecular, Centro Hospitalar Universitário do Porto 1 0 0 0 0 0 0 1
Matsson lab, Uppsala university 0 1 0 0 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 0 1 0 0 0 0 0 1
Department of Psychiatry, The University of Hong Kong 0 0 1 0 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 0 0 0 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 1 0 0 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.