ClinVar Miner

Variants studied for DMD-related muscular dystrophy

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
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
2261 439 2616 3500 459 13 8783

Gene and significance breakdown #

Total genes and gene combinations: 25
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
DMD 2178 428 2607 3500 458 13 8680
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, DDX53, DMD, EIF2S3, FTHL17, GK, IL1RAPL1, KLHL15, MAGEB1, MAGEB10, MAGEB18, MAGEB2, MAGEB3, MAGEB4, MAGEB5, MAGEB6, NR0B1, PCYT1B, PDK3, POLA1, PRDX4, PTCHD1, SAT1, SUPT20HL1, SUPT20HL2, TAB3, TASL, 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, FAM47A 0 0 1 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: 118
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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
Natera, Inc. 21 5 568 482 66 0 1142
Mendelics 265 16 10 16 6 0 313
Fulgent Genetics, Fulgent Genetics 13 8 114 25 6 0 166
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 66 36 5 0 0 0 106
OMIM 72 0 3 0 0 0 75
3billion 38 21 10 0 0 0 69
Athena Diagnostics 62 0 0 0 0 0 62
Baylor Genetics 18 26 4 1 0 0 49
Neuberg Centre For Genomic Medicine, NCGM 17 13 7 0 0 0 37
Juno Genomics, Hangzhou Juno Genomics, Inc 21 3 3 0 0 0 27
Genome-Nilou Lab 2 0 7 2 15 0 26
Institute of Human Genetics, University of Leipzig Medical Center 6 6 6 0 1 0 19
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 13 3 2 0 0 0 18
Kariminejad - Najmabadi Pathology & Genetics Center 9 7 0 0 0 0 16
Centro de Genética y Biología Molecular, Universidad de San Martín de Porres 11 3 0 0 0 0 14
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 4 9 1 0 0 0 14
MGZ Medical Genetics Center 3 5 6 0 0 0 14
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 11 0 0 0 0 0 11
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 5 4 2 0 0 0 10
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 5 3 2 0 0 0 10
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 4 4 2 0 0 10
Hunan Provincial Maternal and Child Health Care Hospital 9 0 1 0 0 0 10
Clinical Biomedical Laboratory, Shriners Hospital For Children - Canada 8 1 0 0 0 0 9
Institute of Human Genetics, University of Wuerzburg 4 4 0 0 0 0 8
Phosphorus, Inc. 0 0 2 0 6 0 8
Solve-RD Consortium 2 6 0 0 0 0 8
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 7 0 0 0 0 0 7
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
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 5 5
GenomeConnect, ClinGen 0 0 0 0 0 5 5
Myelin Clinic Disorders, Tarbiat Modares University 0 5 0 0 0 0 5
Pars Genome Lab 0 0 2 0 3 0 5
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 4 0 0 0 4
Clinical Genomics Laboratory, Stanford Medicine 0 0 4 0 0 0 4
Genetics Department, Hospital De La Santa Creu I Sant Pau 0 4 0 0 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 0 1 0 1 0 4
Institute of Human Genetics Munich, TUM University Hospital 2 2 0 0 0 0 4
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 3 1 0 0 0 0 4
Undiagnosed Diseases Network, NIH 3 1 0 0 0 0 4
Variantyx, Inc. 0 4 0 0 0 0 4
Breakthrough Genomics, Breakthrough Genomics 3 0 0 0 0 0 3
Department of Human Genetics, Hannover Medical School 3 0 0 0 0 0 3
GenomeConnect - Brain Gene Registry 0 0 0 0 0 3 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 3 0 0 0 0 0 3
Laboratorio de Biologia Molecular - Genetica, Hospital de Pediatria Garrahan 3 0 0 0 0 0 3
Neuromuscular Diagnostic Laboratory, American University of Beirut Medical Center 3 0 0 0 0 0 3
Otogenetics 2 1 0 0 0 0 3
Applied Translational Genetics Group, University of Auckland 0 1 1 0 0 0 2
CENTOGENE GmbH and LLC - Guiding Precision Medicine 1 1 0 0 0 0 2
CSER _CC_NCGL, University of Washington 0 1 1 0 0 0 2
Center of Excellence for Medical Genomics, Chulalongkorn University 2 0 0 0 0 0 2
Clinical Omics and Informatics (COIN) Unit, Neuroscience Institute, University Of Cape Town 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
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 2 0 0 0 2
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 2 0 0 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 2 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
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust 2 0 0 0 0 0 2
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 1 0 2
Tehran Medical Genetics Laboratory 0 2 0 0 0 0 2
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
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen 1 0 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 Genomics Laboratory, Washington University in St. Louis 0 0 1 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 Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 0 1 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 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
Dubai Health Genomic Medicine Center, Dubai Health 1 0 0 0 0 0 1
Emory University School of Medicine, Department of Human Genetics, Emory University 0 1 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 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
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 0 1 0 0 0 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
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 1 0 0 0 0 0 1
Institute of Medical Genetics, University of Zurich 0 0 0 1 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
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 1
Matsson lab, Uppsala university 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
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
Palindrome, Gene Kavoshgaran Aria 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
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
Unidade de Genética Molecular, Centro Hospitalar Universitário do Porto 1 0 0 0 0 0 1

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