ClinVar Miner

Variants studied for Becker muscular dystrophy

Included ClinVar conditions (5):
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
154 100 628 493 76 8 1433

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
DMD 154 100 626 493 76 8 1431
PKP2 0 0 1 0 0 0 1
SNTA1 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 38
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Natera, Inc. 31 8 568 482 66 0 1155
Fulgent Genetics, Fulgent Genetics 8 2 104 25 6 0 145
Mendelics 74 1 0 0 0 0 75
Myriad Genetics, Inc. 0 61 0 0 0 0 61
Baylor Genetics 11 16 3 0 0 0 30
OMIM 13 0 1 0 0 0 14
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 3 6 5 0 0 0 14
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 11 0 0 0 0 0 11
Athena Diagnostics Inc 0 0 0 0 7 0 7
MGZ Medical Genetics Center 1 2 2 0 0 0 5
Counsyl 2 2 1 0 0 0 5
GenomeConnect, ClinGen 0 0 0 0 0 4 4
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 4 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 1 1 1 0 0 0 3
GenomeConnect - Brain Gene Registry 0 0 0 0 0 3 3
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 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
Institute of Human Genetics, University of Wuerzburg 1 1 0 0 0 0 2
Phosphorus, Inc. 0 0 2 0 0 0 2
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 2 0 0 0 0 0 2
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 2 0 0 0 2
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 0 2 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 1 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 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
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 0 1 0 0 0 1
Laboratorio de Biologia Molecular - Genetica, Hospital de Pediatria Garrahan 1 0 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
3billion 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 1
Unidade de Genética Molecular, Centro Hospitalar Universitário do Porto 1 0 0 0 0 0 1
Matsson lab, Uppsala university 0 1 0 0 0 0 1

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