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 total
172 158 542 286 79 3 1015

Condition and significance breakdown #

Total conditions: 16
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Condition pathogenic likely pathogenic uncertain significance likely benign benign other total
Glycogen storage disease, type II 131 145 411 160 53 3 793
not provided 74 17 225 58 46 1 408
not specified 1 0 11 127 48 0 166
Glycogen storage disease II, adult form 7 0 0 0 0 0 7
Glycogen storage disease type II, infantile 5 0 1 0 0 0 6
Cardiomyopathy 0 0 0 2 1 0 3
Dilated cardiomyopathy 0 0 0 0 3 0 3
Glycogen storage disease 2 1 0 0 0 0 3
Inborn genetic diseases 3 0 0 0 0 0 3
Hypertrophic cardiomyopathy 0 0 0 2 0 0 2
Acid alpha-glucosidase, allele 2 0 0 0 0 1 0 1
Acid alpha-glucosidase, allele 4 1 0 0 0 0 0 1
Elevated serum creatine phosphokinase 1 0 0 0 0 0 1
Long QT syndrome 0 0 0 1 0 0 1
Myopathy 1 0 0 0 0 0 1
Ventricular fibrillation 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 50
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign other total
Invitae 86 17 296 175 25 3 602
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 57 6 208 12 42 1 326
Counsyl 21 124 52 7 2 0 206
GeneDx 25 11 11 118 21 0 186
Illumina Clinical Services Laboratory,Illumina 5 2 96 11 21 0 135
Integrated Genetics/Laboratory Corporation of America 34 5 10 6 7 0 62
PreventionGenetics,PreventionGenetics 0 0 0 14 34 0 48
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 3 0 2 11 28 0 44
Genetic Services Laboratory, University of Chicago 2 0 2 5 14 0 23
CeGaT Praxis fuer Humangenetik Tuebingen 12 0 6 2 0 0 20
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 2 1 4 3 9 0 19
OMIM 17 0 0 0 1 0 18
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 15 0 15
Fulgent Genetics,Fulgent Genetics 7 1 4 0 0 0 12
Phosphorus, Inc. 0 0 0 0 11 0 11
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego 0 0 0 6 4 0 10
Molecular Therapies Laboratory,Murdoch University 7 0 0 0 0 0 7
Stanford Center for Inherited Cardiovascular Disease,Stanford University 0 0 5 0 1 0 6
Department of Pediatrics, Division of Medical Genetics, Faculty of Medicine Ramathibodi Hospital, Mahidol University 5 0 0 0 1 0 6
GeneReviews 5 0 0 0 0 0 5
Myriad Women's Health, Inc. 5 0 0 0 0 0 5
Mendelics 2 1 0 0 1 0 4
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 2 1 0 0 0 0 3
Ambry Genetics 3 0 0 0 0 0 3
Blueprint Genetics 1 0 2 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 1 0 0 0 0 3
Medical Genetic Department,Shiraz University Of Medical Science 3 0 0 0 0 0 3
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 2 0 1 0 0 0 3
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 1 1 0 0 0 3
Baylor Genetics 2 0 0 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 2 0 0 0 0 0 2
Laboratorio de Medicina Genomica, Hospital General de Culiacan 2 0 0 0 0 0 2
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1 0 0 0 1 0 2
Medical Molecular Genetics Department, National Research Center 2 0 0 0 0 0 2
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 1 0 0 0 1
Claritas Genomics 1 0 0 0 0 0 1
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 0 0 1 0 0 1
Institute of Human Genetics,Klinikum rechts der Isar 1 0 0 0 0 0 1
Freeman-Sheldon Research Group,deGruyter-McKusick Institute of Health Sciences 1 0 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 1
Institute of Human Genetics,University of Wuerzburg 1 0 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 0 0 0 0 1
The Molecular Genetic Diagnosis Center, Children’s Hospital of Fudan University 1 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 0 1
Tehran Medical Genetics Laboratory 0 1 0 0 0 0 1
Broad Institute Rare Disease Group,Broad Institute 1 0 0 0 0 0 1
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 1 0 0 0 0 0 1
Reproductive Health Research and Development,BGI Genomics 1 0 0 0 0 0 1
NxGen MDx 0 1 0 0 0 0 1

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