ClinVar Miner

Variants studied for lysosomal glycogen storage disease

Included ClinVar conditions (6):
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
590 495 1193 1330 171 3 10 3316

Gene and significance breakdown #

Total genes and gene combinations: 10
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
GAA 489 473 932 1142 88 3 9 2683
LAMP2 100 20 254 180 76 0 1 610
CCDC40, GAA 1 1 1 4 7 0 0 13
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
AKAP14, ATP1B4, LAMP2, NDUFA1, NKAP, RHOXF1, RHOXF2, RHOXF2B, RNF113A, TMEM255A, UPF3B, ZBTB33 0 0 1 0 0 0 0 1
CUL4B, LAMP2 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: 97
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Labcorp Genetics (formerly Invitae), Labcorp 475 127 898 1276 95 3 0 2874
Natera, Inc. 66 8 277 45 20 0 0 416
ClinGen Lysosomal Storage Disorder Variant Curation Expert Panel 154 83 60 8 15 0 0 320
Fulgent Genetics, Fulgent Genetics 73 75 124 20 1 0 0 293
Genome-Nilou Lab 1 22 186 42 40 0 0 291
Baylor Genetics 155 118 16 0 0 0 0 289
Illumina Laboratory Services, Illumina 8 2 142 22 78 0 0 252
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
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 117 30 0 0 0 0 0 147
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 6 4 6 14 22 0 0 52
Myriad Genetics, Inc. 5 24 3 0 0 0 0 32
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 20 8 0 0 0 0 0 28
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 13 8 2 0 0 0 0 23
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 5 17 0 0 22
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 12 5 1 0 0 0 0 18
OMIM 17 0 0 0 0 0 0 17
Phosphorus, Inc. 0 0 0 0 12 0 0 12
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 6 1 3 1 0 0 0 11
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 3 2 6 0 0 0 0 11
MGZ Medical Genetics Center 5 1 4 0 0 0 0 10
3billion, Medical Genetics 7 1 1 0 0 0 0 9
Neuberg Centre For Genomic Medicine, NCGM 6 3 0 0 0 0 0 9
Mendelics 5 0 1 1 1 0 0 8
Molecular Therapies Laboratory, Murdoch University 7 0 0 0 0 0 0 7
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
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 3 1 0 0 0 0 5
Juno Genomics, Hangzhou Juno Genomics, Inc 3 2 0 0 0 0 0 5
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 3 2 0 0 0 0 0 5
GeneDx 1 0 1 0 2 0 0 4
Revvity Omics, Revvity 0 0 4 0 0 0 0 4
Knight Diagnostic Laboratories, Oregon Health and Sciences University 3 1 0 0 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 2 0 2 0 0 0 0 4
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 4 0 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
Lildballe Lab, Aarhus University Hospital 0 4 0 0 0 0 0 4
Centogene AG - the Rare Disease Company 3 0 0 0 0 0 0 3
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 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
GenomeConnect, ClinGen 0 0 0 0 0 0 3 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
Molecular Genetics, Royal Melbourne Hospital 1 0 1 1 0 0 0 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
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
Clinical Genomics Laboratory, Washington University in St. Louis 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
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 2 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
Genomic Diagnostics Laboratory, National Institute of Medical Genomics 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
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 0 1 1 0 0 0 0 2
Kids Neuroscience Centre, Sydney Children's Hospitals Network 2 0 0 0 0 0 0 2
Suma Genomics 0 0 2 0 0 0 0 2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 1 0 0 0 0 0 2
Neurogenomics Lab, Neuroscience Institute, University Of Cape Town 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
KardioGenetik, Herz- und Diabeteszentrum NRW 1 1 0 0 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 0 0 0 0 1
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
Blueprint Genetics 0 1 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
Medical Genetics and Mitochondrial Research group, Latvian Biomedical Research and Study center 1 0 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
Ege University Pediatric Genetics, Ege University 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
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
Cytoplasmic Inheritance Laboratory, Institute of Genetics and Cytology 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
Department of Human Genetics, Hannover Medical School 0 1 0 0 0 0 0 1
The Laboratory of Cardiovascular Diseases, The First Hospital of LanZhou University 0 1 0 0 0 0 0 1
School of Medicine, Universitat de Girona 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
Department of Cardiovascular Medicine, The University of Tokyo, Graduate School of Medicine 0 1 0 0 0 0 0 1

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