ClinVar Miner

Variants studied for Duchenne muscular dystrophy

Coded as:
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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 pathogenic, low penetrance not provided total
1799 297 1810 2942 399 1 1 7201

Gene and significance breakdown #

Total genes and gene combinations: 19
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign pathogenic, low penetrance not provided total
DMD 1721 287 1802 2942 398 1 1 7105
DMD, LOC129391296 31 4 1 0 0 0 0 36
DMD, MIR3915, MIR548F5 23 0 2 0 0 0 0 25
DMD, MIR548F5 6 1 0 0 0 0 0 7
DMD, LOC129391296, LOC129391297 5 1 0 0 0 0 0 6
DMD, MIR3915 3 1 1 0 0 0 0 5
DMD, LOC121627963, LOC125446277, LOC130068084, LOC130068085, LOC130068086, LOC130068087, LOC130068088, LOC130068089 1 1 1 0 0 0 0 3
DMD, LOC129391297 3 0 0 0 0 0 0 3
DMD, FTHL17, GK, IL1RAPL1, MAGEB1, MAGEB2, MAGEB3, MAGEB4, NR0B1, TAB3, TASL 1 1 0 0 0 0 0 2
DCAF8L1, DCAF8L2, DMD, FTHL17, GK, IL1RAPL1, MAGEB1, MAGEB10, MAGEB2, MAGEB3, MAGEB4, NR0B1, TAB3, TASL 1 0 0 0 0 0 0 1
DMD, FTHL17 0 0 0 0 1 0 0 1
DMD, LOC121627963, LOC125446277, LOC129391296, LOC129391297, LOC130068083, LOC130068084, LOC130068085, LOC130068086, LOC130068087, LOC130068088, LOC130068089, MIR3915, MIR548F5 1 0 0 0 0 0 0 1
DMD, LOC121627963, LOC125446277, LOC129391296, LOC129391297, LOC130068084, LOC130068085, LOC130068086, LOC130068087, LOC130068088, LOC130068089, MIR3915, MIR548F5 0 0 1 0 0 0 0 1
DMD, LOC121627963, LOC130068086, LOC130068087, LOC130068088, LOC130068089 1 0 0 0 0 0 0 1
DMD, LOC129391296, LOC129391297, MIR3915, MIR548F5 0 1 0 0 0 0 0 1
DMD, LOC129391297, MIR3915, MIR548F5 1 0 0 0 0 0 0 1
DMD, LOC130068083 1 0 0 0 0 0 0 1
PKP2 0 0 1 0 0 0 0 1
SNTA1 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 64
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign pathogenic, low penetrance not provided total
Invitae 1518 197 1770 2926 393 1 0 6805
Mendelics 187 13 9 18 6 0 0 233
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 61 31 0 0 0 0 0 92
Athena Diagnostics Inc 62 0 0 0 0 0 0 62
OMIM 59 0 2 0 0 0 0 61
3billion 12 11 7 0 0 0 0 30
Genome-Nilou Lab 2 0 7 2 15 0 0 26
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 7 8 3 0 0 0 0 18
Baylor Genetics 6 6 1 1 0 0 0 14
Centro de Genética y Biología Molecular, Universidad de San Martín de Porres 11 3 0 0 0 0 0 14
Institute of Human Genetics, University of Leipzig Medical Center 2 3 5 0 1 0 0 11
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 10 0 0 0 0 0 0 10
Broad Institute Rare Disease Group, Broad Institute 5 4 2 0 0 0 0 10
MGZ Medical Genetics Center 2 3 4 0 0 0 0 9
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 6 0 2 0 0 0 0 8
Phosphorus, Inc. 0 0 2 0 6 0 0 8
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 3 3 1 0 0 0 0 7
Counsyl 2 2 1 0 0 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
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 0 0 0 1 0 0 3
Institute of Human Genetics, University of Wuerzburg 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
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 0 0 0 0 0 0 2
Centogene AG - the Rare Disease Company 1 1 0 0 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 2 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
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 1 0 0 0 0 0 2
Center of Excellence for Medical Genomics, Chulalongkorn University 2 0 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 0 2
Lifecell International Pvt. Ltd 1 1 0 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 0 0 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 0 1 0 0 0 0 1
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 0 1 0 0 0 0 0 1
Center for Genetic Medicine Research, Children's National Medical Center 0 1 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 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
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
GenomeConnect, ClinGen 0 0 0 0 0 0 1 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 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
Laboratory of Functional Genomics, Research Centre for Medical Genetics 0 1 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
Institute of Human Genetics, University Hospital Muenster 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
Kids Neuroscience Centre, Sydney Children's Hospitals Network 0 1 0 0 0 0 0 1
Suma Genomics 1 0 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
Human Genetics Bochum, Ruhr University Bochum 0 1 0 0 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 0 0 0 1 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 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
Breakthrough Genomics, Breakthrough Genomics 1 0 0 0 0 0 0 1

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