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 total
80 136 254 100 51 3 567

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign other total
GAA 79 136 254 94 44 3 553
CCDC40, GAA 0 0 0 6 7 0 13
​intergenic 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign other total
Invitae 27 5 171 72 23 3 301
Counsyl 17 124 51 7 2 0 201
Illumina Clinical Services Laboratory,Illumina 5 2 45 21 14 0 87
Integrated Genetics/Laboratory Corporation of America 34 5 0 0 0 0 39
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 16 0 16
Fulgent Genetics 7 1 4 0 0 0 12
Phosphorus, Inc. 0 0 0 0 12 0 12
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 9 1 0 0 0 0 10
GeneReviews 5 0 0 0 0 0 5
OMIM 4 0 0 0 0 0 4
Medical Genetic Department,Shiraz University Of Medical Science 3 0 0 0 0 0 3
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 2 0 1 0 0 0 3
Baylor Miraca Genetics Laboratories, 2 0 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 2 0 0 0 0 0 2
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 1 0 1 0 0 0 2
Genomic Research Center,Shahid Beheshti University of Medical Sciences 1 1 0 0 0 0 2
Knight Diagnostic Laboratories,Oregon Health and Sciences University 2 0 0 0 0 0 2
Laboratorio de Medicina Genomica, Hospital General de Culiacan 2 0 0 0 0 0 2
Broad Institute Rare Disease Group,Broad Institute 2 0 0 0 0 0 2
Claritas Genomics 1 0 0 0 0 0 1
Institute of Human Genetics,Klinikum rechts der Isar 1 0 0 0 0 0 1
Freeman-Sheldon Research Group,deGruyter-McKusick Institute of Health Sciences 1 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 0 1
Tehran Medical Genetics Laboratory 0 1 0 0 0 0 1

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