ClinVar Miner

Variants in gene CAPN3

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Minimum submission review status: Collection method:
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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
315 254 666 661 93 17 1695

Condition and significance breakdown #

Total conditions: 24
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Autosomal recessive limb-girdle muscular dystrophy type 2A 268 171 496 603 41 15 1416
not provided 125 73 301 65 70 0 577
Muscular dystrophy, limb-girdle, autosomal dominant 4 108 60 17 1 9 0 193
not specified 0 0 36 35 30 0 88
Autosomal recessive limb-girdle muscular dystrophy type 2A; Muscular dystrophy, limb-girdle, autosomal dominant 4 17 4 23 1 2 0 47
Limb-Girdle Muscular Dystrophy, Recessive 1 0 28 5 2 0 36
Autosomal recessive limb-girdle muscular dystrophy 24 6 3 0 0 0 33
Abnormality of the musculature 16 12 0 0 0 0 28
Inborn genetic diseases 0 0 17 3 0 0 20
CAPN3-Related Disorders 3 1 0 0 0 2 6
CAPN3-related condition 5 0 1 0 0 0 6
Limb-girdle muscular dystrophy 2 0 1 0 0 0 3
See cases 2 1 0 0 0 0 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
Myopathy; Muscle weakness; Absent Achilles reflex 1 1 0 0 0 0 2
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
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
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

Submitter and significance breakdown #

Total submitters: 83
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 253 44 361 590 33 0 1281
Eurofins Ntd Llc (ga) 87 22 200 5 17 0 331
GeneDx 28 23 41 68 72 0 232
Natera, Inc. 34 5 140 18 15 0 212
Revvity Omics, Revvity Omics 55 25 95 0 0 0 175
Baylor Genetics 108 58 7 0 0 0 173
Counsyl 22 81 56 5 0 0 164
Illumina Laboratory Services, Illumina 6 4 71 13 6 0 95
Athena Diagnostics Inc 40 9 21 3 15 0 88
CeGaT Center for Human Genetics Tuebingen 27 8 14 8 3 0 60
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 23 6 23 2 4 0 58
Fulgent Genetics, Fulgent Genetics 18 4 23 1 2 0 48
Preventiongenetics, part of Exact Sciences 5 0 1 15 20 0 41
Broad Institute Rare Disease Group, Broad Institute 12 10 9 0 0 0 31
Kariminejad - Najmabadi Pathology & Genetics Center 16 12 0 0 0 0 28
Genome-Nilou Lab 1 1 9 3 9 0 22
Myriad Genetics, Inc. 3 16 2 0 0 0 21
Ambry Genetics 0 0 17 3 0 0 20
Genetic Services Laboratory, University of Chicago 5 1 3 7 2 0 18
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 5 6 7 0 0 0 18
MGZ Medical Genetics Center 7 3 5 0 0 0 15
GeneReviews 0 0 0 0 0 13 13
Mayo Clinic Laboratories, Mayo Clinic 6 0 6 0 0 0 12
3billion 5 5 2 0 0 0 12
OMIM 11 0 0 0 0 0 11
Centre for Mendelian Genomics, University Medical Centre Ljubljana 5 2 3 0 0 0 10
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 3 3 2 0 0 0 8
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 2 1 0 2 2 0 7
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 0 0 3 3 0 6
DASA 5 1 0 0 0 0 6
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 4 0 5
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 3 2 0 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
Mendelics 2 0 1 0 1 0 4
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 3 1 0 0 0 0 4
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 0 3 0 0 0 0 3
Clinical Genetics and Genomics, Karolinska University Hospital 2 1 0 0 0 0 3
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 2 1 0 0 0 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 2 0 0 0 0 3
Lifecell International Pvt. Ltd 2 1 0 0 0 0 3
Molecular Genetics, Royal Melbourne Hospital 1 0 2 0 0 0 3
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 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
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
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 2 0 0 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
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 2 0 0 0 2
Medical Genetic Department, The Affiliated Hospital of Qingdao University 2 0 0 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 2 0 0 0 0 0 2
Eurofins-Biomnis 0 2 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 1 0 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 0 0 0 1
Institute of Human Genetics, Cologne University 1 0 0 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 1 0 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
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 1 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
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 1 0 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 1 0 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 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
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 1
Laboratory of Medical Genetics, Tor Vergata University 0 1 0 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
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 0 0 1
Clinical Genetics Laboratory, Noor Gene 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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