ClinVar Miner

Variants in gene GAA

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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 other not provided total
271 237 711 398 84 3 1 1360

Condition and significance breakdown #

Total conditions: 18
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Condition pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Glycogen storage disease, type II 248 228 576 315 59 3 1 1208
not provided 76 17 233 58 45 1 0 409
not specified 0 0 22 127 53 0 0 173
Glycogen storage disease II, adult form 7 0 0 0 0 0 0 7
Glycogen storage disease type II, infantile 5 0 1 0 0 0 0 6
Cardiomyopathy 0 0 0 2 1 0 0 3
Inborn genetic diseases 3 0 0 0 0 0 0 3
Primary dilated cardiomyopathy 0 0 0 0 3 0 0 3
Glycogen storage disease 1 1 0 0 0 0 0 2
Hypertrophic cardiomyopathy 0 0 0 2 0 0 0 2
Acid alpha-glucosidase, allele 2 0 0 0 0 1 0 0 1
Acid alpha-glucosidase, allele 4 1 0 0 0 0 0 0 1
Elevated serum creatine phosphokinase 1 0 0 0 0 0 0 1
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 1 0 0 0 0 0 0 1
Glycoprotein storage disease 1 0 0 0 0 0 0 1
Long QT syndrome 0 0 0 1 0 0 0 1
Myopathy 1 0 0 0 0 0 0 1
Ventricular fibrillation 0 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 62
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Invitae 171 25 425 294 25 3 0 943
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 57 6 208 12 42 1 0 326
Broad Institute Rare Disease Group, Broad Institute 69 56 30 48 8 0 0 211
Counsyl 16 124 52 7 2 0 0 201
GeneDx 25 11 11 118 21 0 0 186
Natera, Inc. 27 2 99 14 5 0 0 147
ClinGen Lysosomal Storage Disorder Variant Curation Expert Panel, ClinGen 66 43 15 2 10 0 0 136
Illumina Clinical Services Laboratory,Illumina 5 2 96 11 21 0 0 135
Integrated Genetics/Laboratory Corporation of America 67 16 21 8 18 0 0 130
PreventionGenetics, PreventionGenetics 0 0 0 14 34 0 0 48
Mayo Clinic Laboratories, Mayo Clinic 3 0 2 11 28 0 0 44
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 4 1 5 9 11 0 0 30
CeGaT Praxis fuer Humangenetik Tuebingen 17 0 7 4 0 0 0 28
Genetic Services Laboratory, University of Chicago 2 0 2 5 14 0 0 23
OMIM 17 0 0 0 1 0 0 18
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 15 0 0 15
Myriad Women's Health, Inc. 5 8 0 0 0 0 0 13
Fulgent Genetics,Fulgent Genetics 7 1 4 0 0 0 0 12
Phosphorus, Inc. 0 0 0 0 11 0 0 11
Baylor Genetics 4 0 6 0 0 0 0 10
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego 0 0 0 6 4 0 0 10
Department of Pathology and Laboratory Medicine,Sinai Health System 1 0 8 0 0 0 0 9
Institute of Medical Genetics and Genomics,Sir Ganga Ram Hospital 5 1 2 0 0 0 0 8
Molecular Therapies Laboratory,Murdoch University 7 0 0 0 0 0 0 7
Stanford Center for Inherited Cardiovascular Disease,Stanford University 0 0 5 0 1 0 0 6
Department of Pediatrics, Division of Medical Genetics, Faculty of Medicine Ramathibodi Hospital, Mahidol University 5 0 0 0 1 0 0 6
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 4 1 0 0 0 0 0 5
GeneReviews 5 0 0 0 0 0 0 5
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 3 0 0 0 0 0 5
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 3 1 1 0 0 0 0 5
Mendelics 2 1 0 0 1 0 0 4
Knight Diagnostic Laboratories, Oregon Health and Sciences University 3 1 0 0 0 0 0 4
Ambry Genetics 3 0 0 0 0 0 0 3
Blueprint Genetics 1 0 2 0 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 1 0 0 0 0 0 3
Medical Genetic Department,Shiraz University Of Medical Science 3 0 0 0 0 0 0 3
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 2 0 1 0 0 0 0 3
Medical Molecular Genetics Department, National Research Center 3 0 0 0 0 0 0 3
Centogene AG - the Rare Disease Company 2 0 0 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 1 0 0 0 0 2
Laboratorio de Medicina Genomica, Hospital General de Culiacan 2 0 0 0 0 0 0 2
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1 0 0 0 1 0 0 2
Pathology and Clinical Laboratory Medicine,King Fahad Medical City 2 0 0 0 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 2 0 0 0 0 0 0 2
NxGen MDx 0 2 0 0 0 0 0 2
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 1 0 0 0 0 1
Claritas Genomics 1 0 0 0 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 1 0 0 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 0 0 1 0 0 0 1
Institute of Human Genetics, Klinikum rechts der Isar 1 0 0 0 0 0 0 1
Freeman-Sheldon Research Group,deGruyter-McKusick Institute of Health Sciences 1 0 0 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 0 1
Institute of Human Genetics,University of Wuerzburg 1 0 0 0 0 0 0 1
The Molecular Genetic Diagnosis Center, Children’s Hospital of Fudan University 1 0 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 1 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 0 1
Tehran Medical Genetics Laboratory 0 1 0 0 0 0 0 1
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 1 0 0 0 0 0 0 1
Reproductive Health Research and Development,BGI Genomics 1 0 0 0 0 0 0 1
Pars Genome Lab 0 0 0 1 0 0 0 1

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