ClinVar Miner

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

Coded as:
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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 not provided total
296 180 525 646 45 15 1523

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
CAPN3 272 172 494 603 41 15 1421
CAPN3, LOC126862115 15 5 26 32 3 0 77
CAPN3, LOC130056921 5 2 5 11 1 0 20
CAPN3, GANC 1 1 0 0 0 0 2
CAPN3, LOC126862115, LOC130056920, LOC130056921 2 0 0 0 0 0 2
CAPN3, LOC130056920, LOC130056921 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 56
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 277 49 387 629 36 0 1378
Natera, Inc. 36 5 147 19 16 0 223
Counsyl 22 84 59 5 0 0 170
Illumina Laboratory Services, Illumina 6 4 69 14 6 0 99
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 13 14 3 0 0 0 30
Genome-Nilou Lab 1 1 11 2 10 0 25
Myriad Genetics, Inc. 3 17 2 0 0 0 22
Neuberg Centre For Genomic Medicine, NCGM 6 5 9 0 0 0 20
Baylor Genetics 6 3 5 0 0 0 14
Athena Diagnostics 12 1 0 0 1 0 14
MGZ Medical Genetics Center 7 3 3 0 0 0 13
GeneReviews 0 0 0 0 0 13 13
3billion 5 5 2 0 0 0 12
OMIM 10 0 0 0 0 0 10
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 8 2 0 0 0 0 10
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 3 3 1 0 0 0 7
Genetic Services Laboratory, University of Chicago 4 1 0 0 0 0 5
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 3 2 0 0 0 0 5
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 2 1 2 0 0 0 5
Mendelics 2 0 0 0 2 0 4
Pars Genome Lab 0 0 2 2 0 0 4
Molecular Genetics, Royal Melbourne Hospital 2 0 1 0 0 0 3
Neurogenomics Lab, Neuroscience Institute, University Of Cape Town 0 2 1 0 0 0 3
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 1 0 2
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 2 0 0 0 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 1 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 1 0 0 0 2
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 2 0 0 0 0 2
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 2 0 0 0 0 2
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 1 1 0 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 0 1 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 1 1 0 0 0 0 2
SIB Swiss Institute of Bioinformatics 1 0 0 0 1 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Neuromuscular Diagnostic Laboratory, American University of Beirut Medical Center 2 0 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
Lifecell International Pvt. Ltd 2 0 0 0 0 0 2
Medical Genetic Department, The Affiliated Hospital of Qingdao University 2 0 0 0 0 0 2
Eurofins-Biomnis 0 2 0 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 0 1
Institute of Human Genetics, Cologne University 1 0 0 0 0 0 1
Fulgent Genetics, Fulgent Genetics 1 0 0 0 0 0 1
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 0 0 1 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 1 0 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 1 0 0 0 0 1
Medical Genetics and Mitochondrial Research group, Latvian Biomedical Research and Study center 0 1 0 0 0 0 1
Institute of Human Genetics, University of Wuerzburg 0 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 0 1
Genetic Diseases Diagnostic Center, Koc University Hospital 0 1 0 0 0 0 1
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 0 0 1 0 0 0 1
Rare Diseases Genetics and Genomics, Islamia College Peshawar 1 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 0 0 0 0 1
Biomedical Genomics and Oncogenetics Laboratory, Institut Pasteur de Tunis, University Tunis El Manar 1 0 0 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 1 0 0 0 0 1

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