ClinVar Miner

Variants studied for Becker muscular dystrophy

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
192 72 648 494 73 12 1462

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
DMD 191 72 645 494 73 12 1458
ACOT9, APOO, ARX, CXorf58, DCAF8L1, DCAF8L2, DDX53, DMD, EIF2S3, FTHL17, GK, IL1RAPL1, KLHL15, MAGEB1, MAGEB10, MAGEB18, MAGEB2, MAGEB3, MAGEB4, MAGEB5, MAGEB6, NR0B1, PCYT1B, PDK3, POLA1, PRDX4, PTCHD1, SAT1, SUPT20HL1, SUPT20HL2, TAB3, TASL, ZFX 1 0 0 0 0 0 1
DMD, FAM47A 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: 58
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Natera, Inc. 21 5 568 482 66 0 1142
Fulgent Genetics, Fulgent Genetics 13 8 114 25 6 0 166
Mendelics 74 1 0 0 0 0 75
Baylor Genetics 13 21 3 0 0 0 37
Juno Genomics, Hangzhou Juno Genomics, Inc 19 2 3 0 0 0 24
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 3 6 5 0 0 0 14
OMIM 13 0 1 0 0 0 14
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 11 0 0 0 0 0 11
Hunan Provincial Maternal and Child Health Care Hospital 8 0 1 0 0 0 9
Solve-RD Consortium 1 6 0 0 0 0 7
3billion 2 2 1 0 0 0 5
Counsyl 2 2 1 0 0 0 5
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 5 5
MGZ Medical Genetics Center 1 2 2 0 0 0 5
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 4 0 0 0 4
Clinical Genomics Laboratory, Stanford Medicine 0 0 4 0 0 0 4
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 3 0 1 0 0 0 4
Genetics Department, Hospital De La Santa Creu I Sant Pau 0 4 0 0 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 4 4
Institute of Human Genetics, University of Leipzig Medical Center 1 2 1 0 0 0 4
Neuberg Centre For Genomic Medicine, NCGM 1 0 3 0 0 0 4
Variantyx, Inc. 0 4 0 0 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 1 0 0 0 0 4
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 2 1 0 0 0 0 3
GenomeConnect - Brain Gene Registry 0 0 0 0 0 3 3
Otogenetics 2 1 0 0 0 0 3
Undiagnosed Diseases Network, NIH 2 1 0 0 0 0 3
CSER _CC_NCGL, University of Washington 0 1 1 0 0 0 2
Clinical Omics and Informatics (COIN) Unit, Neuroscience Institute, University Of Cape Town 2 0 0 0 0 0 2
Department of Human Genetics, Hannover Medical School 2 0 0 0 0 0 2
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 2 0 0 0 2
Institute of Human Genetics Munich, TUM University Hospital 2 0 0 0 0 0 2
Institute of Human Genetics, University of Wuerzburg 1 1 0 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 2 0 0 0 2
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust 2 0 0 0 0 0 2
Phosphorus, Inc. 0 0 2 0 0 0 2
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 1 0 2
Applied Translational Genetics Group, University of Auckland 0 1 0 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 1 0 0 0 0 0 1
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen 1 0 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 0 1 0 0 0 1
Dubai Health Genomic Medicine Center, Dubai Health 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
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 1
Institute of Medical Genetics, University of Zurich 0 0 0 1 0 0 1
Laboratorio de Biologia Molecular - Genetica, Hospital de Pediatria Garrahan 1 0 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 1
Matsson lab, Uppsala university 0 1 0 0 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
Palindrome, Gene Kavoshgaran Aria 1 0 0 0 0 0 1
Unidade de Genética Molecular, Centro Hospitalar Universitário do Porto 1 0 0 0 0 0 1

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