ClinVar Miner

Variants studied for Autosomal recessive limb-girdle muscular dystrophy type 2B

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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 total
113 120 431 107 62 795

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 total
DYSF 110 118 427 106 61 787
DYSF, LOC122787137 1 1 4 1 1 5
CAPN3 0 1 0 0 0 1
DYSF, LOC122787136 1 0 0 0 0 1
LMNA 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 54
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Natera, Inc. 47 8 336 91 48 530
Counsyl 40 66 56 15 0 177
Genome-Nilou Lab 0 0 18 2 20 40
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 5 10 11 0 0 26
Neuberg Centre For Genomic Medicine, NCGM 1 13 12 0 0 26
OMIM 16 0 0 0 0 16
Neuropathology Laboratory of Hebei Province, The Second Hospital of Hebei Medical University 7 0 4 0 0 11
MGZ Medical Genetics Center 2 4 4 0 0 10
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 3 5 1 0 0 9
Athena Diagnostics 7 1 0 0 0 8
Mendelics 0 0 3 2 2 7
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 3 2 1 0 0 6
GeniaGeo, Laboratorio Genia 4 2 0 0 0 6
3billion 2 3 0 0 0 5
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea 2 2 0 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 2 0 0 3
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 3 0 0 0 0 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 3 0 0 0 3
James R Lupski Laboratory, Baylor College Of Medicine 3 0 0 0 0 3
Baylor Genetics 0 1 1 0 0 2
Center for Genetic Medicine Research, Children's National Medical Center 0 2 0 0 0 2
Institute of Human Genetics, University of Wuerzburg 0 0 2 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 2 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 2 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 1 1 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 1 1 0 0 0 2
Genetic Diseases Diagnostic Center, Koc University Hospital 0 2 0 0 0 2
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 0 0 2 2
Laboratory of Medical Genetics, Tor Vergata University 1 1 0 0 0 2
Lifecell International Pvt. Ltd 1 1 0 0 0 2
Kids Neuroscience Centre, Sydney Children's Hospitals Network 1 0 1 0 0 2
Genomics England Pilot Project, Genomics England 0 2 0 0 0 2
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 1
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 0 1 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 0 1 0 0 1
Sema4, Sema4 0 1 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 1
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 1
Genetic Research, Kawsar Human Genetics Research Center 1 0 0 0 0 1
Tehran Medical Genetics Laboratory 0 1 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 1
Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences 0 1 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 1
Concord Molecular Medicine Laboratory, Concord Repatriation General Hospital 0 0 1 0 0 1
Human Genome Lab, NIMHANS, National Institute of Mental Health and Neuro Sciences 1 0 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 1 0 0 0 0 1
Genetic Laboratory, Progenet 0 1 0 0 0 1

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