ClinVar Miner

Variants in gene CAPN3

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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 total
128 130 313 63 35 553

Condition and significance breakdown #

Total conditions: 10
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 99 38 222 1 9 357
Limb-girdle muscular dystrophy, type 2A 64 100 131 32 22 314
not specified 0 0 14 43 34 72
Limb-Girdle Muscular Dystrophy, Recessive 0 0 29 7 2 38
Limb-girdle muscular dystrophy, type 2A; MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 4 6 1 1 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 1 0 0 0 0 1
MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 4 1 0 0 0 0 1
Muscular Diseases; Muscle weakness; Absent Achilles reflex 0 1 0 0 0 1
Muscular dystrophy; Muscle weakness; Arrhythmia; Elbow flexion contracture; Contractures of the joints of the lower limbs 1 0 0 0 0 1
Myositis, eosinophilic 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 31
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 90 22 212 5 19 348
Counsyl 21 85 59 5 0 170
Invitae 30 15 57 21 19 142
GeneDx 24 9 14 23 20 90
Athena Diagnostics Inc 31 5 13 0 10 59
Illumina Clinical Services Laboratory,Illumina 2 3 34 7 2 48
PreventionGenetics 0 0 0 16 25 41
Genetic Services Laboratory, University of Chicago 4 1 3 9 2 19
OMIM 9 0 0 0 0 9
Fulgent Genetics 7 1 1 0 0 9
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 0 4 5
CeGaT Praxis fuer Humangenetik Tuebingen 0 2 3 0 0 5
GeneReviews 4 0 0 0 0 4
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 3 1 0 0 0 4
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 3 0 0 0 3
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 1 0 0 0 3
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 1 1 2
HudsonAlpha Institute for Biotechnology 0 1 1 0 0 2
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 2 0 0 0 2
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 1 1 0 0 0 2
SIB Swiss Institute of Bioinformatics 1 0 0 0 1 2
Neuromuscular Diagnostic Laboratory,American University of Beirut Medical Center 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 2
Institute of Human Genetics,Cologne University 1 0 0 0 0 1
Center for Genetic Medicine Research,Children's National Medical Center 0 1 0 0 0 1
UCLA Clinical Genomics Center, UCLA 1 0 0 0 0 1
Kariminejad-Najmabadi Pathology and Genetics Center,KNPGC 0 1 0 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 1 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 1 0 0 0 0 1
Broad Institute Rare Disease Group,Broad Institute 0 1 0 0 0 1
Molecular Diagnostics Laboratory,M Health: University of Minnesota 1 0 0 0 0 1

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