ClinVar Miner

Variants in gene CAPN3

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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
366 376 832 706 93 50 2012

Condition and significance breakdown #

Total conditions: 46
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Autosomal recessive limb-girdle muscular dystrophy type 2A 307 260 603 642 41 15 1640
not provided 146 94 340 84 65 0 652
Muscular dystrophy, limb-girdle, autosomal dominant 4 117 84 19 1 9 0 226
not specified 0 0 86 39 29 0 142
Autosomal recessive limb-girdle muscular dystrophy type 2A; Muscular dystrophy, limb-girdle, autosomal dominant 4 49 47 23 1 2 3 124
Autosomal recessive limb-girdle muscular dystrophy 80 33 7 4 4 0 122
Inborn genetic diseases 1 4 79 6 0 0 90
CAPN3-related disorder 11 3 6 11 1 2 33
Abnormality of the musculature 10 9 0 0 0 0 19
Cervical cancer 0 0 0 0 0 7 7
Ovarian serous cystadenocarcinoma 0 0 0 0 0 5 5
See cases 2 2 1 0 0 0 5
Acute myeloid leukemia 0 0 0 0 0 4 4
Gastric cancer 0 0 0 0 0 4 4
Malignant tumor of esophagus 0 0 0 0 0 4 4
Melanoma 0 0 0 0 0 4 4
Sarcoma 0 0 0 0 0 4 4
Cholangiocarcinoma 0 0 0 0 0 3 3
Clear cell carcinoma of kidney 0 0 0 0 0 3 3
Limb-girdle muscular dystrophy 2 0 1 0 0 0 3
Thymoma 0 0 0 0 0 3 3
Cardiac arrhythmia; Muscular dystrophy; Muscle weakness; Elbow flexion contracture; Lower-limb joint contracture 2 0 0 0 0 0 2
Elevated circulating creatine kinase concentration; Migraine; Difficulty walking; Positive Romberg sign; Paresthesia; EMG: neuropathic changes; Progressive spinal muscular atrophy; Absent muscle fiber calpain-3 2 0 0 0 0 0 2
Familial cancer of breast 0 0 0 0 0 2 2
Hepatocellular carcinoma 0 0 0 0 0 2 2
Lung cancer 0 0 0 0 0 2 2
Malignant tumor of urinary bladder 0 0 0 0 0 2 2
Myopathy; Muscle weakness; Absent Achilles reflex 1 1 0 0 0 0 2
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 2 2
Autosomal recessive disease 1 0 0 0 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2B 0 1 0 0 0 0 1
Congenital muscular dystrophy 1 0 0 0 0 0 1
EMG: myopathic abnormalities; Shoulder girdle muscle weakness 1 0 0 0 0 0 1
Glioma susceptibility 1 0 0 0 0 0 1 1
Limb-girdle muscular dystrophy, recessive 1 0 0 0 0 0 1
Lymphoma 0 0 0 0 0 1 1
Malignant lymphoma, large B-cell, diffuse 0 0 0 0 0 1 1
Mesothelioma 0 0 0 0 0 1 1
Muscular dystrophy 1 0 0 0 0 0 1
Muscular dystrophy; Limb-girdle muscle weakness; Shoulder girdle muscle weakness 1 0 0 0 0 0 1
Myopathy, centronuclear, 2 0 0 0 1 0 0 1
Myositis, eosinophilic 1 0 0 0 0 0 1
Qualitative or quantitative defects of calpain 1 0 0 0 0 0 1
Shoulder girdle muscle weakness; Calf muscle hypertrophy 1 0 0 0 0 0 1
Uterine carcinosarcoma 0 0 0 0 0 1 1
Uterine corpus endometrial carcinoma 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 111
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 276 60 421 628 33 0 1418
Natera, Inc. 89 68 185 18 15 0 375
Eurofins Ntd Llc (ga) 87 21 200 5 17 0 330
GeneDx 35 34 67 67 72 0 275
Revvity Omics, Revvity 85 40 124 1 0 0 250
Baylor Genetics 118 77 7 0 0 0 202
Counsyl 22 81 56 5 0 0 164
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 48 14 75 7 3 0 147
Fulgent Genetics, Fulgent Genetics 47 46 19 1 2 0 115
Athena Diagnostics 44 11 28 7 16 0 106
Ambry Genetics 1 4 79 6 0 0 90
ClinGen Limb Girdle Muscular Dystrophy Variant Curation Expert Panel, ClinGen 58 21 1 4 4 0 88
Illumina Laboratory Services, Illumina 7 2 61 10 6 0 86
CeGaT Center for Human Genetics Tuebingen 33 9 23 19 0 0 84
PreventionGenetics, part of Exact Sciences 10 2 5 26 21 0 64
Breakthrough Genomics, Breakthrough Genomics 2 1 5 22 26 0 56
Kariminejad - Najmabadi Pathology & Genetics Center 23 21 4 0 0 0 48
Mayo Clinic Laboratories, Mayo Clinic 10 0 13 4 13 0 40
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 14 16 4 0 0 0 33
Myriad Genetics, Inc. 9 22 2 0 0 0 33
3billion 13 12 6 0 0 0 31
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 30 30
Neuberg Centre For Genomic Medicine, NCGM 7 11 10 0 0 0 28
Genome-Nilou Lab 1 1 9 3 9 0 22
Genetic Services Laboratory, University of Chicago 5 1 3 7 2 0 18
MGZ Medical Genetics Center 7 3 5 0 0 0 15
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 5 5 3 1 0 0 14
GeneReviews 0 0 0 0 0 13 13
Department of Pathology and Laboratory Medicine, Sinai Health System 6 0 5 0 0 0 11
OMIM 11 0 0 0 0 0 11
Centre for Mendelian Genomics, University Medical Centre Ljubljana 5 2 3 0 0 0 10
Dasa 9 1 0 0 0 0 10
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 8 2 0 0 0 0 10
Mendelics 6 0 2 0 1 0 9
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 7 0 2 0 0 0 9
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 3 3 2 0 0 0 8
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 4 3 0 0 0 0 7
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 2 1 0 2 2 0 7
Clinical Genetics Laboratory, Skane University Hospital Lund 4 1 1 0 0 0 6
First Genomix Gene Laboratory, Genetic Diagnostics Department 3 3 0 0 0 0 6
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 0 0 3 3 0 6
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 4 0 5
Medical Molecular Genetics Department, National Research Center 1 4 0 0 0 0 5
Molecular Genetics, Royal Melbourne Hospital 2 0 3 0 0 0 5
Pars Genome Lab 0 0 3 2 0 0 5
Clinical Genetics, Academic Medical Center 0 0 0 1 3 0 4
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 4 4
Institute of Human Genetics, Heidelberg University 3 1 0 0 0 0 4
Juno Genomics, Hangzhou Juno Genomics, Inc 3 1 0 0 0 0 4
Centre of Medical Genetics, University Hospital Muenster 0 2 1 0 0 0 3
Clinical Genetics and Genomics, Karolinska University Hospital 2 1 0 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Institute of Human Genetics Munich, TUM University Hospital 2 1 0 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 1 2 0 0 0 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 2 0 0 0 0 3
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 2 1 0 0 0 0 3
Lifecell International Pvt. Ltd 2 1 0 0 0 0 3
Variantyx, Inc. 1 2 0 0 0 0 3
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 0 1 0 0 0 2
Centre for Medical Genetics, Mumbai 0 1 0 1 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 1 0 1 0 0 0 2
Clinical Omics and Informatics (COIN) Unit, Neuroscience Institute, University Of Cape Town 0 1 1 0 0 0 2
Concord Molecular Medicine Laboratory, Concord Repatriation General Hospital 0 1 1 0 0 0 2
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 0 2 0 0 0 2
Department of Human Genetics, Hannover Medical School 0 2 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
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 1 0 0 0 2
Dubai Health Genomic Medicine Center, Dubai Health 0 0 2 0 0 0 2
Eurofins-Biomnis 0 2 0 0 0 0 2
Genetic Diseases Diagnostic Center, Koc University Hospital 2 1 0 0 0 0 2
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 2 0 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 2 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 1 0 0 0 2
Inheritance Genetic Center 1 1 0 0 0 0 2
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 1 1 0 0 0 2
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 2 0 0 0 0 2
Institute of Human Genetics, Cologne University 1 0 1 0 0 0 2
Institute of Human Genetics, University of Wuerzburg 0 1 1 0 0 0 2
Intergen Genetics and Rare Diseases Diagnosis Center 1 0 1 0 0 0 2
Laboratory of Genetics, Children's Clinical University Hospital Latvia 1 1 0 0 0 0 2
Medical Genetic Department, The Affiliated Hospital of Qingdao University 2 0 0 0 0 0 2
Medical and Scientific Branch, Hong Kong Genome Institute 2 0 0 0 0 0 2
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 2 0 0 0 0 2
Neuromuscular Diagnostic Laboratory, American University of Beirut Medical Center 2 0 0 0 0 0 2
Solve-RD Consortium 0 2 0 0 0 0 2
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 1 1 0 0 0 0 2
Biomedical Genomics and Oncogenetics Laboratory, Institut Pasteur de Tunis, University Tunis El Manar 1 0 0 0 0 0 1
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 1 0 0 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 1 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 1 0 0 0 0 1
Centre for Clinical Genetics and Genomic Diagnostics, Zealand University Hospital 0 1 0 0 0 0 1
Clinical Genetics Laboratory, Noor Gene 1 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 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
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 1 0 0 0 0 1
Division of Neurology, Stellenbosch University 0 1 0 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 1 0 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 1 0 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 0 0 1
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 0 0 1 0 0 0 1
Laboratory of Medical Genetics, Tor Vergata University 0 1 0 0 0 0 1
MVZ Martinsried, Medicover Genetics 0 0 1 0 0 0 1
Medical Genetics and Mitochondrial Research group, Latvian Biomedical Research and Study center 0 1 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 0 1
OLLIN Analises Genomicas, OLLIN 0 1 0 0 0 0 1
Rare Diseases Genetics and Genomics, Islamia College Peshawar 1 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 1 0 0 0 0 0 1
Suma Genomics 0 1 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 1 0 0 0 0 0 1
University of Washington Department of Laboratory Medicine, University of Washington 0 0 1 0 0 0 1

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