ClinVar Miner

Variants in gene CAPN3

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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
165 137 392 132 56 1 721

Condition and significance breakdown #

Total conditions: 16
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Limb-girdle muscular dystrophy, type 2A 113 106 236 75 26 1 479
not provided 107 40 225 39 33 0 425
not specified 0 0 13 43 34 0 71
Limb-Girdle Muscular Dystrophy, Recessive 1 0 29 7 2 0 39
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
MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 4 1 1 0 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
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: 38
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 92 22 212 5 19 0 350
Invitae 81 15 128 74 23 0 321
Counsyl 25 86 59 5 0 0 175
GeneDx 25 10 14 40 40 0 129
Illumina Clinical Services Laboratory,Illumina 4 3 71 16 6 0 95
Athena Diagnostics Inc 34 6 14 1 13 0 68
PreventionGenetics,PreventionGenetics 0 0 0 16 25 0 41
CeGaT Praxis fuer Humangenetik Tuebingen 19 3 12 3 0 0 37
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
OMIM 11 0 0 0 0 0 11
Fulgent Genetics,Fulgent Genetics 7 1 1 0 0 0 9
Baylor Genetics 4 1 0 0 0 0 5
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
Centre for Mendelian Genomics,University Medical Centre Ljubljana 3 1 0 0 0 0 4
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 3 0 0 0 0 3
Myriad Women's Health, Inc. 2 0 1 0 0 0 3
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
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
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
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Kariminejad - Najmabadi Pathology & Genetics Center 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health: 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

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