ClinVar Miner

Variants studied for Glycogen storage disease, type II

Coded as:
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
524 558 1010 1197 89 3 15 2883

Gene and significance breakdown #

Total genes and gene combinations: 7
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
GAA 522 556 1005 1195 89 3 15 2874
CCDC40, GAA 1 1 1 1 0 0 0 3
GAA, LOC130061897 0 0 2 1 0 0 0 2
​intergenic 1 0 0 0 0 0 0 1
CCDC40, GAA, LOC130061897 0 0 1 0 0 0 0 1
EIF4A3, GAA 0 0 1 0 0 0 0 1
PIK3CA 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 96
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Labcorp Genetics (formerly Invitae), Labcorp 426 135 717 1157 63 3 0 2501
Natera, Inc. 119 98 333 47 20 0 0 617
ClinGen Lysosomal Storage Disorder Variant Curation Expert Panel 190 106 66 9 15 0 0 386
Genome-Nilou Lab 1 22 186 42 39 0 0 290
Baylor Genetics 153 118 14 0 0 0 0 285
Fulgent Genetics, Fulgent Genetics 73 75 102 17 0 0 0 267
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 70 57 29 48 8 0 0 212
Counsyl 16 122 49 7 2 0 0 196
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 135 54 0 0 0 0 0 189
Illumina Laboratory Services, Illumina 9 2 88 11 21 0 0 131
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 7 5 13 22 17 0 0 64
Myriad Genetics, Inc. 13 30 3 0 0 0 0 46
3billion 16 5 7 0 0 0 0 28
Department of Pathology and Laboratory Medicine, Sinai Health System 7 0 13 1 2 0 0 23
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
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 1 0 0 0 14
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 10 2 0 0 0 0 0 12
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 5 1 4 0 0 0 0 10
OMIM 10 0 0 0 0 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 7 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
Juno Genomics, Hangzhou Juno Genomics, Inc 4 2 0 0 0 0 0 6
Kariminejad - Najmabadi Pathology & Genetics Center 5 1 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
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
Arcensus 3 1 0 0 0 0 0 4
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 2 1 1 0 0 0 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 3 0 0 0 0 0 4
Dasa 4 0 0 0 0 0 0 4
Department of Human Genetics, Hannover Medical School 2 2 0 0 0 0 0 4
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 3 1 0 0 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 3 0 1 0 0 0 0 4
Knight Diagnostic Laboratories, Oregon Health and Sciences University 3 1 0 0 0 0 0 4
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 2 0 1 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, Stanford Medicine 2 0 1 0 0 0 0 3
Clinical Genomics Laboratory, Washington University in St. Louis 2 1 0 0 0 0 0 3
First Genomix Gene Laboratory, Genetic Diagnostics Department 3 0 0 0 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 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 Medical Genetics and Applied Genomics, University Hospital Tübingen 3 0 0 0 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 3 0 0 0 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
Servicio Canario de Salud, Hospital Universitario Nuestra Sra. de Candelaria 3 0 0 0 0 0 0 3
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
Clinical Omics and Informatics (COIN) Unit, Neuroscience Institute, University Of Cape Town 2 0 0 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 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
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 Genetics Laboratory, Skane University Hospital Lund 0 1 0 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
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
Ladle Lab, Johns Hopkins University 0 1 0 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 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
Molecular Genetics, Royal Melbourne Hospital 0 0 1 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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