ClinVar Miner

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

Included ClinVar conditions (2):
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
318 238 553 668 45 16 1623

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 291 229 517 624 41 16 1513
CAPN3, LOC126862115 17 6 29 33 3 0 82
CAPN3, LOC130056921 6 2 7 11 1 0 23
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: 66
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 289 61 414 650 36 0 1450
Natera, Inc. 36 5 147 19 16 0 223
Counsyl 22 84 59 5 0 0 170
Fulgent Genetics, Fulgent Genetics 49 47 20 1 2 0 119
Illumina Laboratory Services, Illumina 6 4 64 14 6 0 94
Kariminejad - Najmabadi Pathology & Genetics Center 14 11 5 0 0 0 30
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 13 14 3 0 0 0 30
Neuberg Centre For Genomic Medicine, NCGM 7 10 10 0 0 0 27
Genome-Nilou Lab 1 1 11 2 10 0 25
Myriad Genetics, Inc. 3 17 2 0 0 0 22
3billion 7 7 5 0 0 0 19
Baylor Genetics 6 3 5 0 0 0 14
MGZ Medical Genetics Center 7 3 3 0 0 0 13
GeneReviews 0 0 0 0 0 13 13
Athena Diagnostics 10 0 0 0 1 0 11
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 9 2 0 0 0 0 11
OMIM 10 0 0 0 0 0 10
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 6 0 2 0 0 0 8
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 3 1 3 0 0 0 7
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 3 3 1 0 0 0 7
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 4 3 0 0 0 0 7
Department of Pathology and Laboratory Medicine, Sinai Health System 5 0 1 0 0 0 6
Genetic Services Laboratory, University of Chicago 4 1 0 0 0 0 5
Medical Molecular Genetics Department, National Research Center 1 4 0 0 0 0 5
Mendelics 2 0 0 0 2 0 4
Pars Genome Lab 0 0 2 2 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 1 2 0 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Juno Genomics, Hangzhou Juno Genomics, Inc 3 0 0 0 0 0 3
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 2 1 0 0 0 0 3
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
Breakthrough Genomics, Breakthrough Genomics 2 1 0 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
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 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 Wuerzburg 0 1 1 0 0 0 2
SIB Swiss Institute of Bioinformatics 1 0 0 0 1 0 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
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
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
University of Washington Department of Laboratory Medicine, University of Washington 0 0 1 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
Suma Genomics 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
Institute of Immunology and Genetics Kaiserslautern 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
Inheritance Genetic Center 1 0 0 0 0 0 1

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