ClinVar Miner

Variants studied for Glycogen storage disease type III

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 not provided total
374 392 1065 1143 76 12 2822

Gene and significance breakdown #

Total genes and gene combinations: 3
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
AGL 373 391 1064 1143 76 12 2819
AFG3L2 0 1 1 0 0 0 2
AGL, SLC35A3 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 61
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 324 51 824 1118 58 0 2375
Natera, Inc. 56 72 378 13 18 0 537
Genome-Nilou Lab 67 39 166 54 42 0 368
Baylor Genetics 66 101 13 0 0 0 180
Counsyl 11 89 21 6 0 0 127
Illumina Laboratory Services, Illumina 3 4 82 6 24 0 119
Fulgent Genetics, Fulgent Genetics 17 17 74 4 2 0 114
Myriad Genetics, Inc. 2 74 0 0 0 0 76
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 31 12 0 0 0 0 43
Revvity Omics, Revvity 17 6 17 1 0 0 41
Centre for Human Genetics 13 7 0 0 1 0 21
Neuberg Centre For Genomic Medicine, NCGM 5 9 7 0 0 0 21
3billion 12 4 3 1 0 0 20
Mendelics 10 2 2 0 0 0 14
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 4 3 5 0 0 0 12
Department of Pathology and Laboratory Medicine, Sinai Health System 1 2 6 1 0 0 10
GeneReviews 0 0 0 0 0 10 10
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 6 0 1 0 0 0 7
CENTOGENE GmbH and LLC - Guiding Precision Medicine 4 2 0 0 0 0 6
Genomic Research Center, Shahid Beheshti University of Medical Sciences 3 1 1 1 0 0 6
Clinical Genomics Laboratory, Stanford Medicine 0 1 4 0 0 0 5
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 3 0 0 0 0 5
Kariminejad - Najmabadi Pathology & Genetics Center 1 4 0 0 0 0 5
Phosphorus, Inc. 0 0 0 1 4 0 5
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 2 1 1 0 0 0 4
Genetics and Molecular Pathology, SA Pathology 3 0 1 0 0 0 4
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 3 0 1 0 0 0 4
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 2 0 0 0 0 3
Dasa 3 0 0 0 0 0 3
Division of Human Genetics, Children's Hospital of Philadelphia 1 2 0 0 0 0 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 2 0 0 0 0 3
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 2 0 0 0 0 3
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 1 0 0 0 2
First Genomix Gene Laboratory, Genetic Diagnostics Department 1 1 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Immunogenetics and Transplant Biology Service, University Hospital "Città della Salute e della Scienza di Torino" 2 0 0 0 0 0 2
Institute of Human Genetics Munich, TUM University Hospital 2 0 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 2 0 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 1 0 1 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 1 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 1 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 1 0 0 0 0 2
Variantyx, Inc. 2 0 0 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 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 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 0 0 0 0 0 1
Centre for Medical Genetics, Mumbai 0 0 0 1 0 0 1
Centro de Biología Molecular Severo Ochoa, Universidad Autónoma de Madrid 1 0 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 0 1
Department of Genetics, Sultan Qaboos University Hospital 0 0 1 0 0 0 1
Dept. of Basic Medical Sciences, Taibah University College of Medicine, Taibah University 0 1 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 0 0 1
Genesis Genoma Lab, Genesis Genoma Lab 1 0 0 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 0 1 0 0 0 1
MVZ Medizinische Genetik Mainz 1 0 0 0 0 0 1
Suma Genomics 1 0 0 0 0 0 1
The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital 1 0 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.