ClinVar Miner

Variants in gene combination CAPN3, SGCB

See also:
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
1 1 0 0 0 1

Condition and significance breakdown #

Total conditions: 11
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Condition pathogenic likely pathogenic total
Congenital muscular dystrophy 1 0 1
EMG: myopathic abnormalities; Shoulder girdle muscle weakness 1 0 1
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 1
Limb-Girdle Muscular Dystrophy, Recessive 1 0 1
Limb-girdle muscular dystrophy, type 2A 1 1 1
Muscular Diseases; Muscle weakness; Absent Achilles reflex 1 0 1
Muscular dystrophy 1 0 1
Muscular dystrophy; Limb-girdle muscle weakness; Shoulder girdle muscle weakness 1 0 1
Muscular dystrophy; Muscle weakness; Arrhythmia; Elbow flexion contracture; Contractures of the joints of the lower limbs 1 0 1
Shoulder girdle muscle weakness; Calf muscle hypertrophy 1 0 1
not provided 1 0 1

Submitter and significance breakdown #

Total submitters: 10
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Submitter pathogenic likely pathogenic total
OMIM 1 0 1
Athena Diagnostics Inc 1 0 1
GeneDx 1 0 1
Counsyl 1 0 1
Invitae 1 0 1
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 1 0 1
GeneReviews 1 0 1
Illumina Clinical Services Laboratory,Illumina 1 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 1
Genetic Diseases Diagnostic Center,Koc University Hospital 0 1 1

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