ClinVar Miner

Variants studied for Duchenne and Becker muscular dystrophy

Included ClinVar conditions (6):
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 not provided total
1136 180 852 549 219 5 2899

Gene and significance breakdown #

Total genes and gene combinations: 9
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
DMD 1101 176 845 549 218 5 2853
DMD, MIR3915, MIR548F5 26 1 3 0 0 0 30
DMD, MIR548F5 6 2 0 0 0 0 8
DMD, MIR3915 3 1 1 0 0 0 5
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
MLH1 0 0 1 0 0 0 1
PKP2 0 0 1 0 0 0 1
SNTA1 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 46
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 841 110 821 527 208 0 2506
Mendelics 186 13 9 19 6 0 233
OMIM 71 0 3 0 0 0 74
Athena Diagnostics Inc 63 0 0 0 7 0 70
Myriad Women's Health, Inc. 0 38 0 0 0 0 38
Baylor Genetics 12 1 4 1 0 0 18
Fulgent Genetics,Fulgent Genetics 4 0 10 0 0 0 14
Centro de Genética y Biología Molecular, Universidad de San Martín de Porres 11 3 0 0 0 0 14
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 11 0 0 0 0 0 11
Natera, Inc. 0 0 4 4 1 0 9
Institute of Human Genetics, University of Leipzig Medical Center 2 1 5 0 1 0 9
Phosphorus, Inc. 0 0 2 0 6 0 8
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 2 3 1 0 0 0 6
Counsyl 2 2 1 0 0 0 5
GenomeConnect, ClinGen 0 0 0 0 0 5 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 0 1 0 1 0 4
Neuromuscular Diagnostic Laboratory,American University of Beirut Medical Center 3 0 0 0 0 0 3
Centogene AG - the Rare Disease Company 1 1 0 0 0 0 2
Institute of Human Genetics, Klinikum rechts der Isar 2 0 0 0 0 0 2
CSER _CC_NCGL, University of Washington 0 1 1 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 2 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
Broad Institute Rare Disease Group, Broad Institute 0 2 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 Rehabilitation Medicine, Incheon St. Mary’s Hospital,College of Medicine, The Catholic University of Korea 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
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 0 1
Center for Genetic Medicine Research,Children's National Medical Center 0 1 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Laboratory Genomica,Gynecology and Assisted Reproduction Hospital Malinov DM 1 0 0 0 0 0 1
GenePathDx,Causeway Health Care Private Ltd 0 0 1 0 0 0 1
Undiagnosed Diseases Network,NIH 1 0 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 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
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 1 0 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
SavaGenome Genetic Health Clinic 1 0 0 0 0 0 1
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology 1 0 0 0 0 0 1
Nilou-Genome Lab 0 0 0 1 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
Pars Genome Lab 0 0 1 0 0 0 1
?Provincial Medical Genetics Program?,BC Women and Children's Hospital 0 0 0 0 1 0 1
Department of Neurogenetics,Institute for Communicative and Cognitive Neurosciences 1 0 0 0 0 0 1

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