ClinVar Miner

Variants in gene DMD

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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 pathogenic, low penetrance not provided total
2544 617 3335 3815 781 1 13 9930

Condition and significance breakdown #

Total conditions: 60
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Condition pathogenic likely pathogenic uncertain significance likely benign benign pathogenic, low penetrance not provided total
Duchenne muscular dystrophy 1961 330 2127 3134 422 1 1 7920
not provided 622 103 966 440 429 0 1 2375
Cardiovascular phenotype 18 5 527 612 99 0 0 1261
Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 31 8 568 482 66 0 0 1155
not specified 29 4 194 281 167 0 0 605
Dilated cardiomyopathy 3B 20 5 164 32 44 0 0 264
Becker muscular dystrophy 131 44 24 0 1 0 0 196
Becker muscular dystrophy; Duchenne muscular dystrophy; Dilated cardiomyopathy 3B 27 10 123 25 6 0 1 189
Qualitative or quantitative defects of dystrophin 122 62 2 0 0 0 1 186
DMD-related disorder 5 2 24 94 10 0 1 136
Becker muscular dystrophy; Duchenne muscular dystrophy 5 62 2 1 0 0 5 73
Dystrophin deficiency 6 0 31 11 5 0 0 53
See cases 29 4 12 6 1 0 0 52
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
Primary familial hypertrophic cardiomyopathy 1 0 5 0 0 0 0 6
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
Progressive muscular dystrophy 0 0 3 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
Achondroplasia 0 0 0 0 0 0 1 1
Becker muscular dystrophy; Dilated cardiomyopathy 3B 0 0 0 0 0 0 1 1
EBV-positive nodal T- and NK-cell lymphoma 0 0 0 1 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
Hereditary skeletal muscle disorder 0 0 0 1 0 0 0 1
Highly elevated creatine kinase 1 0 0 0 0 0 0 1
Inborn genetic diseases 0 0 1 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
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: 156
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign pathogenic, low penetrance not provided total
Labcorp Genetics (formerly Invitae), Labcorp 1685 216 2085 3119 417 1 0 7523
Ambry Genetics 18 5 528 612 99 0 0 1262
GeneDx 145 17 176 450 441 0 0 1229
Natera, Inc. 37 8 598 493 71 0 0 1207
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 120 60 121 56 80 0 0 437
Mendelics 262 15 24 17 7 0 0 325
Athena Diagnostics 117 9 48 7 52 0 0 231
Illumina Laboratory Services, Illumina 5 2 141 31 38 0 0 217
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 53 4 38 34 78 0 0 207
CeGaT Center for Human Genetics Tuebingen 33 12 65 86 2 0 0 198
PreventionGenetics, part of Exact Sciences 4 2 23 103 36 0 0 168
Fulgent Genetics, Fulgent Genetics 13 8 114 25 6 0 0 166
Breakthrough Genomics, Breakthrough Genomics 3 0 8 54 92 0 0 157
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 69 38 6 0 0 0 0 112
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 33 28 46 0 0 108
OMIM 81 0 3 0 0 0 0 84
Quest Diagnostics Nichols Institute San Juan Capistrano 41 2 23 0 0 0 0 66
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
Baylor Genetics 18 26 7 1 0 0 0 52
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 0 4 25 19 0 0 49
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
Neuberg Centre For Genomic Medicine, NCGM 15 11 7 0 0 0 0 33
3billion, Medical Genetics 13 12 6 0 0 0 0 31
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
Institute of Human Genetics, University of Wuerzburg 8 15 2 0 0 0 0 25
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
Juno Genomics, Hangzhou Juno Genomics, Inc 18 3 3 0 0 0 0 24
Mayo Clinic Laboratories, Mayo Clinic 6 1 15 0 0 0 0 22
Kariminejad - Najmabadi Pathology & Genetics Center 15 7 0 0 0 0 0 22
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 10 2 9 0 0 0 0 21
Clinical Genetics Laboratory, Skane University Hospital Lund 5 2 13 0 0 0 0 20
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 6 4 6 0 1 0 0 17
MGZ Medical Genetics Center 3 5 6 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
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 3 4 2 0 0 0 9
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 4 3 2 0 0 0 0 9
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 4 5 0 0 9
Institute of Human Genetics, University Hospital Muenster 7 1 0 0 0 0 0 8
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 3 0 4 0 0 0 0 7
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
GenomeConnect, ClinGen 0 0 0 0 0 0 7 7
Solve-RD Consortium 1 6 0 0 0 0 0 7
Bionano Laboratories 0 0 6 0 0 0 0 6
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 6 0 0 0 0 0 0 6
Phosphorus, Inc. 0 0 0 0 6 0 0 6
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 3 3 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
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
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 3 1 0 0 0 0 0 4
Genetics and Genomics Program, Sidra Medicine 0 0 0 4 0 0 0 4
Clinical Genomics Laboratory, Stanford Medicine 0 0 4 0 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
Neuromuscular Diagnostic Laboratory, American University of Beirut Medical Center 3 0 0 0 0 0 0 3
Laboratorio de Biologia Molecular - Genetica, Hospital de Pediatria Garrahan 3 0 0 0 0 0 0 3
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 0 1 2 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
Molecular Genetics, Royal Melbourne Hospital 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
Prenatal Diagnosis Center, Urumqi Maternal and Child Health Care Hospital 2 1 0 0 0 0 0 3
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 0 1 1 0 0 0 2
Centogene AG - the Rare Disease Company 1 1 0 0 0 0 0 2
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust 2 0 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
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 2 0 0 0 0 2
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 1 0 0 2
Undiagnosed Diseases Network, NIH 2 0 0 0 0 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
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
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
CGC Genetics, Unilabs 0 1 0 0 0 0 0 1
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 0 0 1 0 0 0 1
Institute of Human Genetics, Medical University Innsbruck 1 0 0 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
Daryl Scott Lab, Baylor College of Medicine 0 0 1 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 1 0 0 0 1
Institute of Medical Genetics, University of Zurich 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
Genomic Medicine Lab, University of California San Francisco 1 0 0 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
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 1 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
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 0 0 0 0 0 0 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
Palindrome, Gene Kavoshgaran Aria 1 0 0 0 0 0 0 1
Department of Psychiatry, The University of Hong Kong 0 0 1 0 0 0 0 1
Neurogenomics Lab, Neuroscience Institute, University Of Cape Town 1 0 0 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
Department of Clinical Pathology, School of Medicine, Fujita Health University 0 0 0 1 0 0 0 1

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