ClinVar Miner

Variants studied for Glycogen storage disease type III

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 not provided total
321 304 951 997 72 12 2463

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
AGL 321 303 951 997 72 12 2462
AFG3L2 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 45
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 282 42 808 975 54 0 2161
Genome-Nilou Lab 67 39 166 54 42 0 368
Natera, Inc. 29 4 265 12 18 0 328
Baylor Genetics 56 82 12 0 0 0 150
Counsyl 11 89 21 6 0 0 127
Illumina Laboratory Services, Illumina 0 2 95 6 24 0 127
Fulgent Genetics, Fulgent Genetics 17 17 74 4 2 0 114
Myriad Genetics, Inc. 2 73 0 0 0 0 75
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 28 9 0 0 0 0 37
Revvity Omics, Revvity 16 6 11 0 0 0 33
Centre for Human Genetics 13 7 0 0 1 0 21
Mendelics 10 2 2 0 0 0 14
Neuberg Centre For Genomic Medicine, NCGM 3 5 5 0 0 0 13
3billion 6 3 3 0 0 0 12
GeneReviews 0 0 0 0 0 10 10
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 3 3 4 0 0 0 10
Centogene AG - the Rare Disease Company 4 2 0 0 0 0 6
Genomic Research Center, Shahid Beheshti University of Medical Sciences 3 1 1 1 0 0 6
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 3 0 0 0 0 5
Phosphorus, Inc. 0 0 0 1 4 0 5
Genetics and Molecular Pathology, SA Pathology 3 0 1 0 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 1 0 0 0 3
Division of Human Genetics, Children's Hospital of Philadelphia 1 2 0 0 0 0 3
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 2 0 0 0 0 3
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 2 0 0 0 0 3
DASA 3 0 0 0 0 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 1 0 0 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 2 0 0 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 1 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 1 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 2 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 1 0 0 0 2
Clinical Genomics Program, Stanford Medicine 0 0 2 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 0 0 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 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
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 0 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 0 1 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 1
The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital 1 0 0 0 0 0 1
Genesis Genoma Lab, Genesis Genoma Lab 1 0 0 0 0 0 1
Suma Genomics 1 0 0 0 0 0 1

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