ClinVar Miner

Variants studied for Duchenne muscular dystrophy

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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 not provided total
931 114 643 242 214 1 2123

Gene and significance breakdown #

Total genes and gene combinations: 7
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
DMD 897 110 636 242 214 1 2078
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
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: 27
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 652 88 627 224 206 0 1796
Mendelics 186 13 9 19 6 0 233
Athena Diagnostics Inc 67 0 0 0 0 0 67
OMIM 58 0 2 0 0 0 60
Baylor Genetics 9 1 0 1 0 0 11
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
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
Institute of Human Genetics, University of Leipzig Medical Center 1 1 2 0 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 0 0 0 1 0 3
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
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 2 0 0 0 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
Undiagnosed Diseases Network,NIH 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Broad Institute Rare Disease Group,Broad Institute 0 1 0 0 0 0 1
Hakim Medical Genetics Center Laboratory,Neyshabur University of Medical Sciences 1 0 0 0 0 0 1
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology 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

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