ClinVar Miner

Variants in gene GAA

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Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
542 590 1282 1297 127 3 50 3189

Condition and significance breakdown #

Total conditions: 49
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Condition pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Glycogen storage disease, type II 522 556 1005 1195 89 3 15 2874
not provided 192 125 536 158 83 1 3 957
Cardiovascular phenotype 11 4 121 268 25 0 0 429
not specified 0 0 96 104 57 0 0 234
GAA-related disorder 13 5 14 45 6 0 0 83
Glycogen storage disease due to acid maltase deficiency, late-onset 14 0 0 0 0 0 0 14
Glycogen storage disease 11 2 0 0 0 0 0 13
Gastric cancer 0 0 0 0 0 0 7 7
Ovarian serous cystadenocarcinoma 0 0 0 0 0 0 6 6
Familial cancer of breast 0 0 0 0 0 0 5 5
Melanoma 0 0 0 0 0 0 5 5
Uterine corpus endometrial carcinoma 0 0 0 0 0 0 5 5
Cervical cancer 0 0 0 0 0 0 4 4
Malignant tumor of esophagus 0 0 0 0 0 0 4 4
See cases 1 1 2 0 0 0 0 4
Cardiomyopathy 0 0 0 2 1 0 0 3
Hepatocellular carcinoma 0 0 0 0 0 0 3 3
Malignant lymphoma, large B-cell, diffuse 0 0 0 0 0 0 3 3
Nonpapillary renal cell carcinoma 0 0 0 0 0 0 3 3
Primary dilated cardiomyopathy 0 0 0 0 3 0 0 3
Sarcoma 0 0 0 0 0 0 3 3
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 0 3 3
Acute myeloid leukemia 0 0 0 0 0 0 2 2
Colon adenocarcinoma 0 0 0 0 0 0 2 2
Fetal anomalies with a likely genetic cause 2 0 0 0 0 0 0 2
Glycogen storage disease, type II; Glycogen storage disease due to acid maltase deficiency, late-onset 1 0 1 0 0 0 0 2
Hypertrophic cardiomyopathy 0 0 0 2 0 0 0 2
Malignant tumor of urinary bladder 0 0 0 0 0 0 2 2
Thymoma 0 0 0 0 0 0 2 2
Uterine carcinosarcoma 0 0 0 0 0 0 2 2
Abnormality of metabolism/homeostasis 0 1 0 0 0 0 0 1
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
Acute rhabdomyolysis 0 1 0 0 0 0 0 1
Clear cell carcinoma of kidney 0 0 0 0 0 0 1 1
Elevated circulating creatine kinase concentration 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
Glycogen storage disease type II, infantile 0 0 1 0 0 0 0 1
Glycogen storage disease, type IV 1 0 0 0 0 0 0 1
Glycoprotein storage disease 1 0 0 0 0 0 0 1
Inborn genetic diseases 1 0 0 0 0 0 0 1
Long QT syndrome 0 0 0 1 0 0 0 1
Lung cancer 0 0 0 0 0 0 1 1
Metabolic myopathy 0 0 0 0 1 0 0 1
Muscular dystrophy 0 0 1 0 0 0 0 1
Myopathy 1 0 0 0 0 0 0 1
Papillary renal cell carcinoma type 1 0 0 0 0 0 0 1 1
Rare genetic deafness 0 1 0 0 0 0 0 1
Ventricular fibrillation 0 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 123
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Labcorp Genetics (formerly Invitae), Labcorp 425 135 716 1157 63 3 0 2499
Natera, Inc. 118 98 333 47 20 0 0 616
Revvity Omics, Revvity 142 75 292 3 0 0 0 512
GeneDx 82 25 143 148 79 0 0 476
Ambry Genetics 12 4 121 268 25 0 0 430
ClinGen Lysosomal Storage Disorder Variant Curation Expert Panel 189 106 66 9 15 0 0 385
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 134 54 95 30 20 0 0 333
Eurofins Ntd Llc (ga) 56 6 208 12 43 1 0 326
Genome-Nilou Lab 1 22 186 42 39 0 0 290
Baylor Genetics 152 118 14 0 0 0 0 284
Fulgent Genetics, Fulgent Genetics 73 74 102 17 0 0 0 266
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 70 56 29 47 8 0 0 210
Counsyl 16 122 49 7 2 0 0 196
Mayo Clinic Laboratories, Mayo Clinic 19 10 53 50 34 0 0 166
PreventionGenetics, part of Exact Sciences 13 5 14 59 41 0 0 132
Illumina Laboratory Services, Illumina 9 2 84 10 21 0 0 126
CeGaT Center for Human Genetics Tuebingen 25 6 27 53 1 0 0 112
Breakthrough Genomics, Breakthrough Genomics 0 0 6 17 55 0 0 78
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 7 5 15 22 17 0 0 66
Myriad Genetics, Inc. 13 30 3 0 0 0 0 46
Genome Diagnostics Laboratory, University Medical Center Utrecht 11 1 2 5 21 0 0 40
Genetic Services Laboratory, University of Chicago 11 4 4 5 15 0 0 39
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 0 36 36
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 16 0 1 2 14 0 0 33
AiLife Diagnostics, AiLife Diagnostics 14 14 3 0 0 0 0 31
Department of Pathology and Laboratory Medicine, Sinai Health System 6 0 22 1 2 0 0 31
3billion 16 5 7 0 0 0 0 28
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 3 3 2 0 18 0 0 26
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 13 8 2 0 0 0 0 23
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 14 6 1 0 0 0 0 21
OMIM 20 0 0 0 1 0 0 21
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 12 5 0 0 1 0 0 18
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 16 0 0 16
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 5 2 6 2 0 0 0 15
Neuberg Centre For Genomic Medicine, NCGM 8 4 0 0 0 0 0 12
Phosphorus, Inc. 0 0 0 0 12 0 0 12
MGZ Medical Genetics Center 6 1 4 0 0 0 0 11
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego 0 0 0 6 4 0 0 10
Variantyx, Inc. 7 3 0 0 0 0 0 10
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 5 2 2 0 0 0 0 9
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 8 8
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 1 0 1 6 0 0 0 8
Dasa 6 0 0 0 1 0 0 7
Molecular Therapies Laboratory, Murdoch University 7 0 0 0 0 0 0 7
Department of Pediatrics, Division of Medical Genetics, Faculty of Medicine Ramathibodi Hospital, Mahidol University 5 0 0 0 1 0 0 6
GeneReviews 0 0 0 0 0 0 6 6
Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust, North Thames Genomic Laboratory Hub 6 0 0 0 0 0 0 6
Juno Genomics, Hangzhou Juno Genomics, Inc 4 2 0 0 0 0 0 6
Kariminejad - Najmabadi Pathology & Genetics Center 5 2 0 0 0 0 0 6
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 6 0 0 0 0 0 0 6
Mendelics 4 0 1 0 1 0 0 6
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 0 5 0 1 0 0 6
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 3 1 1 0 0 0 0 5
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 3 0 0 0 0 0 5
Dubai Health Genomic Medicine Center, Dubai Health 3 2 0 0 0 0 0 5
GenomeConnect, ClinGen 0 0 0 0 0 0 5 5
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 3 1 1 0 0 0 0 5
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 3 0 2 0 0 0 0 5
Arcensus 3 1 0 0 0 0 0 4
Clinical Genetics Laboratory, Skane University Hospital Lund 1 1 2 0 0 0 0 4
Clinical Genomics Laboratory, Stanford Medicine 2 0 2 0 0 0 0 4
Department of Human Genetics, Hannover Medical School 2 2 0 0 0 0 0 4
First Genomix Gene Laboratory, Genetic Diagnostics Department 4 0 0 0 0 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 3 1 0 0 0 0 0 4
Knight Diagnostic Laboratories, Oregon Health and Sciences University 3 1 0 0 0 0 0 4
NHS Central & South Genomic Laboratory Hub 2 2 0 0 0 0 0 4
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 2 0 1 0 0 0 0 3
Blueprint Genetics 1 0 2 0 0 0 0 3
Breda Genetics srl, Breda Genetics srl 1 1 1 0 0 0 0 3
CENTOGENE GmbH and LLC - Guiding Precision Medicine 3 0 0 0 0 0 0 3
Clinical Genomics Laboratory, Washington University in St. Louis 2 1 0 0 0 0 0 3
Genome Diagnostics Laboratory, Amsterdam University Medical Center 2 1 0 0 0 0 0 3
Institute of Human Genetics Munich, TUM University Hospital 2 1 0 0 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 2 0 1 0 0 0 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 3 0 0 0 0 0 0 3
Laboratory of Genetics, Children's Clinical University Hospital Latvia 2 0 0 1 0 0 0 3
Lildballe Lab, Aarhus University Hospital 0 3 0 0 0 0 0 3
Medical Genetic Department, Shiraz University Of Medical Science 3 0 0 0 0 0 0 3
Medical Molecular Genetics Department, National Research Center 3 0 0 0 0 0 0 3
Molecular Genetics, Royal Melbourne Hospital 1 0 1 0 1 0 0 3
Servicio Canario de Salud, Hospital Universitario Nuestra Sra. de Candelaria 3 0 0 0 0 0 0 3
Athena Diagnostics 0 0 2 0 0 0 0 2
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 0 1 1 0 0 0 0 2
Biochemical Genetics Department, Cyprus Institute of Neurology and Genetics 1 1 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
Centre of Medical Genetics, University Hospital Muenster 1 1 0 0 0 0 0 2
Clinical Omics and Informatics (COIN) Unit, Neuroscience Institute, University Of Cape Town 2 0 0 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 1 1 0 0 0 0 0 2
Genomic Diagnostics Laboratory, National Institute of Medical Genomics 2 0 0 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 1 0 0 0 0 2
Institute of Human Genetics, University of Wuerzburg 1 0 1 0 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 2 0 0 0 0 0 0 2
KardioGenetik, Herz- und Diabeteszentrum NRW 1 1 0 0 0 0 0 2
Laboratorio de Medicina Genomica, Hospital General de Culiacan 2 0 0 0 0 0 0 2
Medical Genetic Diagnosis and Therapy Center, Fujian Medical University 2 0 0 0 0 0 0 2
NxGen MDx 0 2 0 0 0 0 0 2
Pars Genome Lab 0 0 1 1 0 0 0 2
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 2 0 0 0 0 0 0 2
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 0 0 2 0 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 0 0 0 0 0 0 2
Suma Genomics 0 0 2 0 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 0 1
Center for Molecular Medicine, Children’s Hospital of Fudan University 1 0 0 0 0 0 0 1
Claritas Genomics 1 0 0 0 0 0 0 1
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 0 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 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
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 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
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 1 0 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 0 0 1
Kids Neuroscience Centre, Sydney Children's Hospitals Network 1 0 0 0 0 0 0 1
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 0 1 0 0 0 0 0 1
Molecular Biology Laboratory, Department of Zoology, Quaid-i-azam University 1 0 0 0 0 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 0 0 0 1
MutSpliceDB: a database of splice sites variants effects on splicing, NIH 0 0 0 0 0 0 1 1
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust 1 0 0 0 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 1 0 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 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
University of Washington Department of Laboratory Medicine, University of Washington 0 0 1 0 0 0 0 1

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