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
707 79 367 66 26 4 1232

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 673 75 362 66 26 4 1189
DMD, MIR3915, MIR548F5 26 1 3 0 0 0 30
DMD, MIR548F5 6 2 0 0 0 0 8
DMD, MIR3915 3 2 0 0 0 0 5
PKP2 0 0 1 0 0 0 1
SNTA1 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 30
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 409 54 339 43 11 0 854
Mendelics 186 13 9 19 6 0 233
OMIM 71 0 3 0 0 0 74
Athena Diagnostics Inc 67 0 0 0 7 0 74
Fulgent Genetics,Fulgent Genetics 4 0 10 0 0 0 14
Baylor Genetics 11 1 0 1 0 0 13
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 11 0 0 0 0 0 11
Natera Inc 0 0 5 4 2 0 11
Phosphorus, Inc. 0 0 2 0 6 0 8
Counsyl 2 2 1 0 0 0 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 2 1 0 0 0 4
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 3 1 0 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 4 4
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
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
Institute of Human Genetics,Klinikum rechts der Isar 1 0 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
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 0 1 0 0 0 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

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