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
50 48 165 67 25 301

Condition and significance breakdown #

Total conditions: 12
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Autosomal recessive limb-girdle muscular dystrophy type 2D 32 39 78 29 6 171
not provided 30 11 91 18 14 159
Sarcoglycanopathy 3 0 28 3 7 41
not specified 0 0 2 23 9 32
Cardiomyopathy 0 0 0 1 1 2
Limb-girdle muscular dystrophy, autosomal recessive 1 1 0 0 0 2
Arrhythmogenic right ventricular cardiomyopathy 0 0 0 1 0 1
Elevated serum creatine phosphokinase; Hashimoto thyroiditis; Muscle cramps; EMG: myopathic abnormalities; Exercise-induced myalgia 0 0 1 0 0 1
Hypertrophic cardiomyopathy 0 0 0 1 0 1
Muscular dystrophy 1 0 0 0 0 1
Myopathy 1 0 0 0 0 1
Neuromuscular disorder 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 28
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 28 5 60 41 6 140
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 28 3 85 1 6 123
GeneDx 6 8 6 21 14 55
Counsyl 1 31 18 1 0 51
Illumina Clinical Services Laboratory,Illumina 3 0 30 3 7 43
Athena Diagnostics Inc 3 0 4 1 4 12
PreventionGenetics,PreventionGenetics 0 0 0 6 3 9
OMIM 7 0 0 0 0 7
CeGaT Praxis fuer Humangenetik Tuebingen 3 0 4 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 3 0 1 4
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego 0 0 0 3 1 4
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 1 0 0 0 2 3
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 1 1 0 0 3
Broad Institute Rare Disease Group,Broad Institute 2 0 1 0 0 3
Myriad Women's Health, Inc. 1 2 0 0 0 3
Integrated Genetics/Laboratory Corporation of America 1 1 0 0 0 2
Fulgent Genetics,Fulgent Genetics 2 0 0 0 0 2
Institute of Human Genetics,Klinikum rechts der Isar 2 0 0 0 0 2
Genetic Diseases Diagnostic Center,Koc University Hospital 0 2 0 0 0 2
Mendelics 1 0 0 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 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
Kariminejad - Najmabadi Pathology & Genetics Center 1 0 0 0 0 1
GeniaGeo, Laboratorio Genia 0 1 0 0 0 1
Belal Azab Laboratory,The University of Jordan 1 0 0 0 0 1

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