ClinVar Miner

Variants studied for Duchenne muscular dystrophy

Coded as:
Minimum submission review status: Collection method:
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Gene type:

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
2151 379 2373 3283 432 1 8552

Gene and significance breakdown #

Total genes and gene combinations: 23
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
DMD 2069 368 2365 3283 431 1 8451
DMD, LOC129391296 33 4 1 0 0 0 38
DMD, MIR3915, MIR548F5 23 0 2 0 0 0 25
DMD, MIR548F5 7 1 0 0 0 0 8
DMD, LOC129391296, LOC129391297 5 1 0 0 0 0 6
DMD, MIR3915 3 1 1 0 0 0 5
DMD, LOC121627963, LOC125446277, LOC130068084, LOC130068085, LOC130068086, LOC130068087, LOC130068088, LOC130068089 1 1 1 0 0 0 3
DMD, LOC129391297 3 0 0 0 0 0 3
DMD, FTHL17, GK, IL1RAPL1, MAGEB1, MAGEB2, MAGEB3, MAGEB4, NR0B1, TAB3, TASL 1 1 0 0 0 0 2
DMD, LOC121627963, LOC130068086, LOC130068087, LOC130068088, LOC130068089 1 0 1 0 0 0 2
ACOT9, ADGRG2, APOO, ARX, BCLAF3, BEND2, CBLL2, CDKL5, CNKSR2, CXorf58, DCAF8L1, DCAF8L2, DDX53, DMD, EIF1AX, EIF2S3, FTHL17, GK, IL1RAPL1, KLHL15, KLHL34, LINC01456, LOC101928389, LOC105373150, LOC108410393, LOC109610631, LOC110120592, LOC110120593, LOC110120594, LOC110120595, LOC110120596, LOC110120597, LOC113875017, LOC113875018, LOC113875019, LOC114022706, LOC116309148, LOC116309149, LOC116309150, LOC121627962, LOC121627963, LOC121853052, LOC125446274, LOC125446275, LOC125446276, LOC125446277, LOC126863217, LOC126863218, LOC126863219, LOC126863220, LOC126863221, LOC126863222, LOC126863223, LOC126863224, LOC126863225, LOC126863226, LOC126863227, LOC126863228, LOC126863229, LOC126863230, LOC126863231, LOC126863232, LOC126863233, LOC126863234, LOC126863235, LOC126863236, LOC127933115, LOC129391296, LOC130067998, LOC130067999, LOC130068000, LOC130068001, LOC130068002, LOC130068003, LOC130068004, LOC130068005, LOC130068006, LOC130068007, LOC130068008, LOC130068009, LOC130068010, LOC130068011, LOC130068012, LOC130068013, LOC130068014, LOC130068015, LOC130068016, LOC130068017, LOC130068018, LOC130068019, LOC130068020, LOC130068021, LOC130068022, LOC130068023, LOC130068024, LOC130068025, LOC130068026, LOC130068027, LOC130068028, LOC130068029, LOC130068030, LOC130068031, LOC130068032, LOC130068033, LOC130068034, LOC130068035, LOC130068036, LOC130068037, LOC130068038, LOC130068039, LOC130068040, LOC130068041, LOC130068042, LOC130068043, LOC130068044, LOC130068045, LOC130068046, LOC130068047, LOC130068048, LOC130068049, LOC130068050, LOC130068051, LOC130068052, LOC130068053, LOC130068054, LOC130068055, LOC130068056, LOC130068057, LOC130068058, LOC130068059, LOC130068060, LOC130068061, LOC130068062, LOC130068063, LOC130068064, LOC130068065, LOC130068066, LOC130068067, LOC130068068, LOC130068069, LOC130068070, LOC130068071, LOC130068072, LOC130068073, LOC130068074, LOC130068075, LOC130068076, LOC130068077, LOC130068078, LOC130068079, LOC130068080, LOC130068081, LOC130068082, LOC130068083, LOC130068084, LOC130068085, LOC130068086, LOC130068087, LOC130068088, LOC130068089, LOC729609, MAGEB1, MAGEB10, MAGEB18, MAGEB2, MAGEB3, MAGEB4, MAGEB5, MAGEB6, MAGEB6B, MAP3K15, MAP7D2, MBTPS2, MIR23C, MIR4666B, MIR4768, MIR6134, NHS, NR0B1, PCYT1B, PDHA1, PDK3, PHEX, PHKA2, POLA1, PPEF1, PPP4R3C, PRDX4, PTCHD1, RAI2, RPS6KA3, RS1, SAT1, SAT1-DT, SCARNA23, SCARNA9L, SCML1, SCML2, SH3KBP1, SMPX, SMS, SUPT20HL1, SUPT20HL2, TAB3, TASL, TRV-TAC1-2, YY2, ZFX 1 0 0 0 0 0 1
ACOT9, APOO, ARX, CXorf58, DCAF8L1, DCAF8L2, DMD, EIF2S3, FTHL17, GK, IL1RAPL1, KLHL15, LOC105373150, LOC108410393, LOC109610631, LOC110120592, LOC110120593, LOC110120594, LOC110120595, LOC110120596, LOC110120597, LOC113875017, LOC113875018, LOC113875019, LOC114022706, LOC116309148, LOC116309149, LOC116309150, LOC121627963, LOC125446276, LOC125446277, LOC126863228, LOC126863229, LOC126863230, LOC126863231, LOC126863232, LOC126863233, LOC126863234, LOC126863235, LOC126863236, LOC127933115, LOC129391296, LOC130068044, LOC130068045, LOC130068046, LOC130068047, LOC130068048, LOC130068049, LOC130068050, LOC130068051, LOC130068052, LOC130068053, LOC130068054, LOC130068055, LOC130068056, LOC130068057, LOC130068058, LOC130068059, LOC130068060, LOC130068061, LOC130068062, LOC130068063, LOC130068064, LOC130068065, LOC130068066, LOC130068067, LOC130068068, LOC130068069, LOC130068070, LOC130068071, LOC130068072, LOC130068073, LOC130068074, LOC130068075, LOC130068076, LOC130068077, LOC130068078, LOC130068079, LOC130068080, LOC130068081, LOC130068082, LOC130068083, LOC130068084, LOC130068085, LOC130068086, LOC130068087, LOC130068088, LOC130068089, MAGEB1, MAGEB10, MAGEB18, MAGEB2, MAGEB3, MAGEB4, MAGEB5, MAGEB6, MAGEB6B, MIR4666B, MIR6134, NR0B1, PCYT1B, PDK3, POLA1, PPP4R3C, PRDX4, PTCHD1, SAT1, SAT1-DT, SCARNA23, SUPT20HL1, SUPT20HL2, TAB3, TASL, ZFX 1 0 0 0 0 0 1
DCAF8L1, DCAF8L2, DMD, FTHL17, GK, IL1RAPL1, MAGEB1, MAGEB10, MAGEB2, MAGEB3, MAGEB4, NR0B1, TAB3, TASL 1 0 0 0 0 0 1
DMD, FTHL17 0 0 0 0 1 0 1
DMD, FTHL17, GK, NR0B1, TAB3, TASL 1 0 0 0 0 0 1
DMD, LOC121627963, LOC125446277, LOC129391296, LOC129391297, LOC130068083, LOC130068084, LOC130068085, LOC130068086, LOC130068087, LOC130068088, LOC130068089, MIR3915, MIR548F5 1 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 1
DMD, LOC129391296, LOC129391297, MIR3915, MIR548F5 0 1 0 0 0 0 1
DMD, LOC129391297, MIR3915, MIR548F5 1 0 0 0 0 0 1
DMD, LOC130068083 1 0 0 0 0 0 1
PKP2 0 0 1 0 0 0 1
SNTA1 0 0 1 0 0 0 1
UTRN 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 89
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 1852 234 2327 3265 424 0 8102
Mendelics 191 15 10 16 6 0 238
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 63 31 0 0 0 0 94
3billion 36 19 9 0 0 0 64
Athena Diagnostics 62 0 0 0 0 0 62
OMIM 59 0 2 0 0 0 61
Neuberg Centre For Genomic Medicine, NCGM 16 13 4 0 0 0 33
Genome-Nilou Lab 2 0 7 2 15 0 26
Kariminejad - Najmabadi Pathology & Genetics Center 9 7 0 0 0 0 16
Institute of Human Genetics, University of Leipzig Medical Center 5 4 5 0 1 0 15
Baylor Genetics 6 6 1 1 0 0 14
Centro de Genética y Biología Molecular, Universidad de San Martín de Porres 11 3 0 0 0 0 14
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 10 1 2 0 0 0 13
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 2 8 1 0 0 0 11
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 5 4 2 0 0 0 10
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 10 0 0 0 0 0 10
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 4 4 2 0 0 10
Clinical Biomedical Laboratory, Shriners Hospital For Children - Canada 8 1 0 0 0 0 9
MGZ Medical Genetics Center 2 3 4 0 0 0 9
Phosphorus, Inc. 0 0 2 0 6 0 8
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 3 3 1 0 0 0 7
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 7 0 0 0 0 0 7
Institute of Human Genetics, University of Wuerzburg 3 3 0 0 0 0 6
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 2 4 0 0 0 0 6
Counsyl 2 2 1 0 0 0 5
Myelin Clinic Disorders, Tarbiat Modares University 0 5 0 0 0 0 5
Pars Genome Lab 0 0 2 0 3 0 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 0 0 0 1 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 3 0 0 0 0 0 3
Juno Genomics, Hangzhou Juno Genomics, Inc 2 1 0 0 0 0 3
Neuromuscular Diagnostic Laboratory, American University of Beirut Medical Center 3 0 0 0 0 0 3
Breakthrough Genomics, Breakthrough Genomics 2 0 0 0 0 0 2
CENTOGENE GmbH and LLC - Guiding Precision Medicine 1 1 0 0 0 0 2
Center of Excellence for Medical Genomics, Chulalongkorn University 2 0 0 0 0 0 2
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia 2 0 0 0 0 0 2
Coyote Medical Laboratory (Beijing), Coyote 2 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 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
Department of Reproductive Genetics, International Peace Maternity and Child Health Hospital, Shanghai Jiao Tong University School of Medicine 2 0 0 0 0 0 2
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 2 0 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 0 0 0 0 0 2
Institute of Human Genetics Munich, TUM University Hospital 0 2 0 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 2 0 0 0 2
Laboratorio de Biologia Molecular - Genetica, Hospital de Pediatria Garrahan 2 0 0 0 0 0 2
Lifecell International Pvt. Ltd 1 1 0 0 0 0 2
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 0 1 1 0 0 2
Tehran Medical Genetics Laboratory 0 2 0 0 0 0 2
Applied Translational Genetics Group, University of Auckland 0 0 1 0 0 0 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 1 0 0 0 0 0 1
CGC Genetics, Unilabs 0 1 0 0 0 0 1
Center for Comprehensive Genetic Services, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 1
Center for Genetic Medicine Research, Children's National Medical Center 0 1 0 0 0 0 1
Centre for Medical Genetics, Mumbai 0 0 0 1 0 0 1
Centre of Medical Genetics, University Hospital Muenster 1 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 1
Clinical Genetics Laboratory, Skane University Hospital Lund 1 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 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 1
Department of Human Genetics, Gilbert and Rose-marie Chagoury School of Medicine, Lebanese American University 0 0 0 0 1 0 1
Department of Human Genetics, Hannover Medical School 1 0 0 0 0 0 1
Department of Medical Laboratory, Affiliated Hospital of Southwest Medical University 1 0 0 0 0 0 1
Department of Neurogenetics, Institute for Communicative and Cognitive Neurosciences 1 0 0 0 0 0 1
Department of Neurology, The Second Hospital of Hebei Medical University 0 1 0 0 0 0 1
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 1 0 0 0 0 0 1
GenePathDx, GenePath diagnostics 0 0 1 0 0 0 1
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 0 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 0 1 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Hakim Medical Genetics Center Laboratory, Neyshabur University of Medical Sciences 1 0 0 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 0 1 0 0 0 0 1
Hunan Provincial Maternal and Child Health Care Hospital 1 0 0 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 1 0 0 0 0 0 1
Kids Neuroscience Centre, Sydney Children's Hospitals Network 0 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 0 0 0 0 1
Laboratory Genomica, Gynecology and Assisted Reproduction Hospital Malinov DM 1 0 0 0 0 0 1
Laboratory of Functional Genomics, Research Centre for Medical Genetics 0 1 0 0 0 0 1
Medical Genetic Diagnosis and Therapy Center, Fujian Medical University 0 0 0 1 0 0 1
Medical Genetics Laboratory, Etlik City Hospital 0 0 0 0 1 0 1
Medical and Scientific Branch, Hong Kong Genome Institute 1 0 0 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 1 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 0 0 0 1 0 1
Savagenome Genetic Health Clinic, Tarbiat Modares University 1 0 0 0 0 0 1
Service of Pediatric Gastrohepatology and Metabolic Diseases, University of Medicine of Tirana 0 1 0 0 0 0 1
Solve-RD Consortium 1 0 0 0 0 0 1
Suma Genomics 1 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 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 0 0 1

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