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
249 229 578 438 80 3 1 1350

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
GAA 248 228 576 431 73 3 1 1332
CCDC40, GAA 0 0 2 7 7 0 0 16
​intergenic 1 0 0 0 0 0 0 1
PIK3CA 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 50
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Invitae 171 25 425 395 52 3 0 1071
Broad Institute Rare Disease Group, Broad Institute 69 56 30 48 8 0 0 211
Counsyl 16 124 52 7 2 0 0 201
Illumina Clinical Services Laboratory,Illumina 5 2 98 18 28 0 0 151
Natera, Inc. 27 2 99 14 6 0 0 148
ClinGen Lysosomal Storage Disorder Variant Curation Expert Panel, ClinGen 66 43 15 2 11 0 0 137
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 68 17 0 0 0 0 0 85
Nilou-Genome Lab 0 0 1 5 35 0 0 41
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 4 1 2 9 11 0 0 27
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 16 0 0 16
Myriad Women's Health, Inc. 5 8 0 0 0 0 0 13
Fulgent Genetics,Fulgent Genetics 7 1 4 0 0 0 0 12
Phosphorus, Inc. 0 0 0 0 12 0 0 12
Baylor Genetics 4 0 6 0 0 0 0 10
Institute of Medical Genetics and Genomics,Sir Ganga Ram Hospital 5 1 2 0 0 0 0 8
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 5 0 0 0 0 0 0 5
OMIM 4 0 0 0 0 0 0 4
Mendelics 2 1 0 0 1 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
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 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
Genetic Services Laboratory, University of Chicago 2 0 0 0 0 0 0 2
Centogene AG - the Rare Disease Company 2 0 0 0 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 1 0 1 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
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
NxGen MDx 0 2 0 0 0 0 0 2
Pars Genome Lab 0 0 1 1 0 0 0 2
Claritas Genomics 1 0 0 0 0 0 0 1
Institute of Human Genetics, Klinikum rechts der Isar 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
The Molecular Genetic Diagnosis Center, Children’s Hospital of Fudan University 1 0 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 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
GenomeConnect, ClinGen 0 0 0 0 0 0 1 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
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

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