ClinVar Miner

Variants in gene CAPN3

Minimum submission review status: Collection method:
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Gene type:
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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
200 157 474 202 56 2 894

Condition and significance breakdown #

Total conditions: 19
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Limb-girdle muscular dystrophy, type 2A 158 124 335 159 26 2 692
not provided 110 45 228 40 33 0 431
not specified 0 0 13 43 34 0 71
Limb-Girdle Muscular Dystrophy, Recessive 1 0 29 7 2 0 39
Muscular dystrophy, limb-girdle, autosomal dominant 4 6 2 3 0 0 0 11
Limb-girdle muscular dystrophy, type 2A; Muscular dystrophy, limb-girdle, autosomal dominant 4 6 1 1 0 0 0 8
Elevated serum creatine phosphokinase; 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
Inborn genetic diseases 0 0 2 0 0 0 2
Muscular dystrophy; Muscle weakness; Arrhythmia; Elbow flexion contracture; Contractures of the joints of the lower limbs 2 0 0 0 0 0 2
Myopathy; Muscle weakness; Absent Achilles reflex 1 1 0 0 0 0 2
See cases 2 0 0 0 0 0 2
Autosomal recessive limb-girdle muscular dystrophy type 2B 0 1 0 0 0 0 1
CAPN3-Related Disorders 0 0 1 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
Shoulder girdle muscle weakness; Calf muscle hypertrophy 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 49
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 132 19 205 145 23 0 524
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 92 22 212 5 19 0 350
Counsyl 23 85 59 5 0 0 172
GeneDx 25 10 14 40 40 0 129
Natera, Inc. 17 1 70 11 13 0 112
Illumina Clinical Services Laboratory,Illumina 5 4 72 16 6 0 98
Athena Diagnostics Inc 36 7 16 2 14 0 75
CeGaT Praxis fuer Humangenetik Tuebingen 21 5 13 4 0 0 43
PreventionGenetics, PreventionGenetics 0 0 0 16 25 0 41
Broad Institute Rare Disease Group, Broad Institute 11 10 8 0 0 0 29
Genetic Services Laboratory, University of Chicago 4 1 3 9 2 0 19
Baylor Genetics 10 2 6 0 0 0 18
Myriad Women's Health, Inc. 2 9 1 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
Fulgent Genetics,Fulgent Genetics 7 1 1 0 0 0 9
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 0 4 0 5
GeneReviews 5 0 0 0 0 0 5
Mendelics 2 0 0 0 2 0 4
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 3 1 0 0 0 0 4
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 3 0 0 0 0 3
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 2 1 0 0 0 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 2 0 0 0 0 3
Ambry Genetics 0 0 2 0 0 0 2
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 1 1 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
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
SIB Swiss Institute of Bioinformatics 1 0 0 0 1 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
Medical Genetic Department,The Affiliated Hospital of Qingdao University 2 0 0 0 0 0 2
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 2 0 0 0 0 0 2
Institute of Human Genetics,Cologne University 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 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
Kariminejad-Najmabadi Pathology and Genetics Center,KNPGC 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
Kariminejad - Najmabadi Pathology & Genetics 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
Molecular Genetics Laboratory,University Hospital Copenhagen 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

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