ClinVar Miner

Variants studied for Duchenne muscular dystrophy

Included ClinVar conditions (3):
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
523 49 265 129 140 2 1099

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
DMD 501 46 261 129 140 2 1070
DMD, MIR3915, MIR548F5 15 1 2 0 0 0 18
DMD, MIR548F5 4 1 0 0 0 0 5
DMD, MIR3915 3 1 0 0 0 0 4
PKP2 0 0 1 0 0 0 1
SNTA1 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 289 41 251 128 135 0 844
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 144 0 0 1 0 0 145
Athena Diagnostics Inc 70 0 0 0 7 0 77
OMIM 58 0 2 0 0 0 60
Fulgent Genetics 4 0 10 0 0 0 14
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 10 0 0 0 0 0 10
Phosphorus, Inc. 0 0 2 0 6 0 8
Baylor Miraca Genetics Laboratories, 6 0 0 0 0 0 6
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 0 3 1 0 0 0 4
Genomic Research Center,Shahid Beheshti University of Medical Sciences 1 0 1 0 0 0 2
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 0 2 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Tehran Medical Genetics Laboratory 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
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
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 1 0 0 0 0 0 1
Laboratoire de Cytogenetique,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

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