ClinVar Miner

Variants in gene SGCB

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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 total
32 26 172 41 17 251

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Autosomal recessive limb-girdle muscular dystrophy type 2E 29 23 57 15 4 120
Qualitative or quantitative defects of beta-sarcoglycan 1 2 72 7 9 91
not provided 10 2 65 9 5 90
Limb-Girdle Muscular Dystrophy, Recessive 0 1 40 2 4 47
not specified 0 0 2 11 4 16
Hypertrophic cardiomyopathy 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 19 3 48 20 4 94
Illumina Clinical Services Laboratory,Illumina 1 2 78 8 9 91
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 9 2 60 0 3 74
Counsyl 1 18 10 1 0 30
GeneDx 3 0 4 12 5 24
Athena Diagnostics Inc 1 0 7 1 1 10
OMIM 9 0 0 0 0 9
CeGaT Praxis fuer Humangenetik Tuebingen 1 0 3 0 0 4
PreventionGenetics,PreventionGenetics 0 0 0 1 2 3
Mendelics 2 1 0 0 0 3
SIB Swiss Institute of Bioinformatics 0 2 0 0 0 2
Broad Institute Rare Disease Group,Broad Institute 1 0 1 0 0 2
Baylor Genetics 1 0 0 0 0 1
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 1 0 0 0 0 1
Genetic Services Laboratory, University of Chicago 0 0 1 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 0 1
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego 0 0 0 1 0 1
Myriad Women's Health, Inc. 1 0 0 0 0 1

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