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
121 148 414 196 62 3 772

Condition and significance breakdown #

Total conditions: 11
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Condition pathogenic likely pathogenic uncertain significance likely benign benign other total
Glycogen storage disease, type II 74 135 254 94 44 3 547
not provided 69 17 221 15 32 1 345
not specified 1 0 12 127 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
Inborn genetic diseases 3 0 0 0 0 0 3
Glycogen storage disease 1 1 0 0 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
Muscular Diseases 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 38
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign other total
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 57 6 208 12 42 1 326
Invitae 27 5 171 72 23 3 301
Counsyl 17 124 51 7 2 0 201
GeneDx 24 11 11 110 8 0 164
Illumina Clinical Services Laboratory,Illumina 5 2 45 15 7 0 74
Integrated Genetics/Laboratory Corporation of America 34 5 11 5 7 0 62
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
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 7 1 4 0 0 0 12
Phosphorus, Inc. 0 0 0 0 11 0 11
Stanford Center for Inherited Cardiovascular Disease,Stanford University 0 0 5 0 1 0 6
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 1 0 3 0 1 0 5
GeneReviews 5 0 0 0 0 0 5
Ambry Genetics 3 0 0 0 0 0 3
Blueprint Genetics, 1 0 2 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
Baylor Miraca Genetics Laboratories, 2 0 0 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 1 0 0 0 0 2
Genomic Research Center,Shahid Beheshti University of Medical Sciences 1 1 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
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 1 1 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
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
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

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