ClinVar Miner

Variants in gene SGCA

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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
98 130 260 339 38 734

Condition and significance breakdown #

Total conditions: 16
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Autosomal recessive limb-girdle muscular dystrophy type 2D 90 119 198 313 19 659
not provided 32 17 99 24 25 185
not specified 0 0 9 20 10 38
Sarcoglycanopathy 3 0 25 3 5 36
Inborn genetic diseases 0 0 14 0 0 14
SGCA-related condition 0 1 2 9 2 14
Autosomal recessive limb-girdle muscular dystrophy 6 6 0 0 0 12
Abnormality of the musculature 4 4 0 0 0 8
Cardiomyopathy 0 0 0 1 1 2
Dystrophin deficiency 0 0 0 0 2 2
Arrhythmogenic right ventricular cardiomyopathy 0 0 0 1 0 1
Elevated circulating creatine kinase concentration 0 0 1 0 0 1
Hypertrophic cardiomyopathy 0 0 0 1 0 1
Proximal muscle weakness 0 0 1 0 0 1
Qualitative or quantitative defects of alpha-sarcoglycan 0 0 1 0 0 1
See cases 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 55
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 80 37 139 314 10 580
Eurofins Ntd Llc (ga) 28 3 85 1 6 123
Genome-Nilou Lab 18 17 61 7 13 116
Natera, Inc. 11 3 59 9 6 88
Revvity Omics, Revvity 17 17 50 1 0 85
GeneDx 10 9 11 29 25 84
Baylor Genetics 25 34 0 0 0 59
Counsyl 1 30 17 1 0 49
Illumina Laboratory Services, Illumina 3 1 26 3 5 38
Athena Diagnostics Inc 4 2 11 1 5 23
PreventionGenetics, part of Exact Sciences 0 1 2 15 5 23
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 6 6 7 1 1 21
CeGaT Center for Human Genetics Tuebingen 4 0 6 4 1 15
Ambry Genetics 0 0 14 0 0 14
Fulgent Genetics, Fulgent Genetics 5 2 4 0 0 11
Myriad Genetics, Inc. 1 7 1 0 0 9
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 4 2 2 8
Kariminejad - Najmabadi Pathology & Genetics Center 4 4 0 0 0 8
OMIM 7 0 0 0 0 7
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 2 0 4 0 0 6
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 2 1 3 0 0 6
Genetic Services Laboratory, University of Chicago 1 1 0 1 2 5
Mayo Clinic Laboratories, Mayo Clinic 0 2 2 0 0 4
Clinical Genetics and Genomics, 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
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 2 3
Institute of Human Genetics, University of Wuerzburg 0 1 2 0 0 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 1 1 0 0 3
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 2 0 0 0 1 3
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 1 0 2 0 0 3
Clinical Genetics, Academic Medical Center 0 0 0 0 2 2
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 2 0 0 0 0 2
Department of Medical Genetics, National Institute of Health 0 2 0 0 0 2
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 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
3billion 0 1 1 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 1 0 0 2
Mendelics 1 0 0 0 0 1
Department Of Translational Genomics (developmental Genetics Section), 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
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 1
GeniaGeo, Laboratorio Genia 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 1
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 1 0 0 0 0 1
Belal Azab Laboratory, The University of Jordan 1 0 0 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 1
Pars Genome Lab 0 0 1 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 0 0 0 1

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