ClinVar Miner

Variants in gene SGCA

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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
38 47 131 33 10 223

Condition and significance breakdown #

Total conditions: 5
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 30 10 89 0 3 129
Limb-girdle muscular dystrophy, type 2D 17 38 53 14 3 117
not specified 0 0 2 23 9 32
Sarcoglycanopathies 3 0 1 0 0 4
Muscular dystrophy 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 28 3 85 1 6 123
Counsyl 1 33 17 1 0 52
Invitae 11 3 20 8 3 45
GeneDx 6 7 6 17 4 40
Illumina Clinical Services Laboratory,Illumina 3 0 18 5 0 26
Athena Diagnostics Inc 3 0 4 0 3 10
PreventionGenetics 0 0 0 6 3 9
OMIM 7 0 0 0 0 7
Genetic Services Laboratory, University of Chicago 1 1 0 1 2 5
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 2 0 1 3
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 0 0 2 2
Fulgent Genetics 2 0 0 0 0 2
Genetic Diseases Diagnostic Center,Koc University Hospital 0 2 0 0 0 2
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 1
Knight Diagnostic Laboratories,Oregon Health and Sciences University 1 0 0 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1 0 0 0 0 1
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 1 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 1 0 0 0 0 1
Broad Institute Rare Disease Group,Broad Institute 1 0 0 0 0 1

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