ClinVar Miner

Variants in gene SGCA

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
58 53 181 106 26 358

Condition and significance breakdown #

Total conditions: 10
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Autosomal recessive limb-girdle muscular dystrophy type 2D 41 44 103 75 9 248
not provided 31 13 92 19 14 162
Sarcoglycanopathy 3 0 28 3 7 41
not specified 0 0 2 23 9 32
Cardiomyopathy 0 0 0 1 1 2
Dystrophin deficiency 0 0 0 0 2 2
Limb-girdle muscular dystrophy, autosomal recessive 1 1 0 0 0 2
Arrhythmogenic right ventricular cardiomyopathy 0 0 0 1 0 1
Hypertrophic cardiomyopathy 0 0 0 1 0 1
Muscular dystrophy 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 37
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 37 8 75 83 6 209
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
Natera, Inc. 6 1 22 5 5 39
Athena Diagnostics Inc 3 1 7 1 5 17
PreventionGenetics, PreventionGenetics 0 0 0 6 3 9
CeGaT Praxis fuer Humangenetik Tuebingen 3 0 4 1 0 8
OMIM 7 0 0 0 0 7
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 4 1 2 7
Genetic Services Laboratory, University of Chicago 1 1 0 1 2 5
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 2 2 0 0 0 4
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego 0 0 0 3 1 4
Baylor Genetics 3 0 0 0 0 3
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
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 1 0 2 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
Undiagnosed Diseases Network,NIH 1 1 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
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 1 0 0 0 0 1
GeniaGeo, Laboratorio Genia 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 1
Belal Azab Laboratory,The University of Jordan 1 0 0 0 0 1
Nilou-Genome Lab 0 0 1 0 0 1
Pars Genome Lab 0 0 1 0 0 1

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