ClinVar Miner

Variants studied for Glycogen storage disease, type II

Coded as:
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
479 448 913 1088 94 3 9 2587

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 478 447 908 1080 87 3 9 2566
CCDC40, GAA 0 0 1 4 7 0 0 12
CCDC40, GAA, LOC130061897 0 0 1 3 0 0 0 4
GAA, LOC130061897 0 0 2 1 0 0 0 2
​intergenic 1 0 0 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: 81
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Labcorp Genetics (formerly Invitae), Labcorp 389 114 669 1043 62 3 0 2280
Natera, Inc. 66 8 277 45 20 0 0 416
ClinGen Lysosomal Storage Disorder Variant Curation Expert Panel 147 81 60 7 15 0 0 310
Genome-Nilou Lab 1 22 186 42 39 0 0 290
Baylor Genetics 153 118 14 0 0 0 0 285
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 70 56 30 48 8 0 0 212
Counsyl 16 122 49 7 2 0 0 196
Fulgent Genetics, Fulgent Genetics 46 22 99 17 0 0 0 184
Illumina Laboratory Services, Illumina 8 2 99 18 28 0 0 155
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 115 28 0 0 0 0 0 143
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 6 4 6 14 17 0 0 47
Myriad Genetics, Inc. 5 24 3 0 0 0 0 32
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 12 5 1 0 0 0 0 18
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 16 0 0 16
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 10 2 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
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 3 1 5 0 0 0 0 9
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 5 1 2 0 0 0 0 8
3billion 7 0 1 0 0 0 0 8
Neuberg Centre For Genomic Medicine, NCGM 4 3 1 0 0 0 0 8
Molecular Therapies Laboratory, Murdoch University 7 0 0 0 0 0 0 7
Mendelics 4 0 1 0 1 0 0 6
GeneReviews 0 0 0 0 0 0 6 6
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 6 0 0 0 0 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
Juno Genomics, Hangzhou Juno Genomics, Inc 3 2 0 0 0 0 0 5
OMIM 4 0 0 0 0 0 0 4
Knight Diagnostic Laboratories, Oregon Health and Sciences University 3 1 0 0 0 0 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 3 0 0 0 0 0 4
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 2 1 1 0 0 0 0 4
DASA 4 0 0 0 0 0 0 4
Arcensus 3 1 0 0 0 0 0 4
Centogene AG - the Rare Disease Company 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
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
Institute of Human Genetics, University of Leipzig Medical Center 2 0 1 0 0 0 0 3
Breda Genetics srl 1 1 1 0 0 0 0 3
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 3 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 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
Lildballe Lab, Aarhus University Hospital 0 3 0 0 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 1 0 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 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
Genetics and Molecular Pathology, SA Pathology 1 1 0 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 0 2 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 0 0 0 0 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
Biochemical Genetics Department, Cyprus Institute of Neurology and Genetics 1 1 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
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 0 1 1 0 0 0 0 2
Suma Genomics 0 0 2 0 0 0 0 2
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 0 0 2 0 0 0 0 2
KardioGenetik, Herz- und Diabeteszentrum NRW 1 1 0 0 0 0 0 2
Claritas Genomics 1 0 0 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 1 0 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 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
Center for Molecular Medicine, Children’s Hospital of Fudan University 1 0 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 1 0 0 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 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
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 0 1 0 0 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 1 0 0 0 0 0 0 1
Ladle Lab, Johns Hopkins University 0 1 0 0 0 0 0 1
Kids Neuroscience Centre, Sydney Children's Hospitals Network 1 0 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 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

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