ClinVar Miner

Variants studied for Becker muscular dystrophy

Coded as:
Minimum submission review status: Collection method:
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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 total
131 44 26 0 1 198

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance benign total
DMD 131 44 24 1 196
PKP2 0 0 1 0 1
SNTA1 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 36
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Submitter pathogenic likely pathogenic uncertain significance benign total
Mendelics 74 1 0 0 75
Baylor Genetics 12 21 3 0 36
OMIM 13 0 1 0 14
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 3 6 5 0 14
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 11 0 0 0 11
Solve-RD Consortium 1 6 0 0 7
MGZ Medical Genetics Center 1 2 2 0 5
Counsyl 2 2 1 0 5
Neuberg Centre For Genomic Medicine, NCGM 1 0 3 0 4
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 2 0 1 0 3
Institute of Human Genetics, University of Leipzig Medical Center 1 1 1 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 1 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 2 0 0 0 2
CSER _CC_NCGL, University of Washington 0 1 1 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 2 0 2
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 1 2
Institute of Human Genetics, University of Wuerzburg 1 1 0 0 2
Phosphorus, Inc. 0 0 2 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 2 0 0 0 2
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 2 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 1 0 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 1 0 0 0 1
Emory University School of Medicine, Department of Human Genetics, Emory University 0 1 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 0 0 1 0 1
3billion, Medical Genetics 1 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 1
Unidade de Genética Molecular, Centro Hospitalar Universitário do Porto 1 0 0 0 1
Matsson lab, Uppsala university 0 1 0 0 1
Palindrome, Gene Kavoshgaran Aria 1 0 0 0 1
Neurogenomics Lab, Neuroscience Institute, University Of Cape Town 1 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 1 0 0 0 1

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