ClinVar Miner

Variants studied for Gaucher disease type I

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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 total
52 30 17 0 2 93

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance benign total
GBA1, LOC106627981 48 29 15 2 86
GBA1 4 0 1 0 5
GBA1, THBS3 0 0 1 0 1
MSH6 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 35
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Submitter pathogenic likely pathogenic uncertain significance benign total
OMIM 33 0 0 0 33
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 10 10 1 0 21
Genome-Nilou Lab 1 3 7 2 13
Myriad Genetics, Inc. 6 3 0 0 9
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 5 3 0 0 8
Baylor Genetics 2 1 2 0 5
Centogene AG - the Rare Disease Company 5 0 0 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 0 1 0 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 1 1 0 4
Department of Medical Biology, Faculty of Medicine, Hacettepe University 2 2 0 0 4
Illumina Laboratory Services, Illumina 3 0 0 0 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 3 0 0 0 3
Department of Pediatrics, Division of Medical Genetics, Faculty of Medicine Ramathibodi Hospital, Mahidol University 1 1 1 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 2 0 0 0 2
Mendelics 0 0 2 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 2 0 0 0 2
Hadassah Hebrew University Medical Center 2 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 2 0 0 0 2
Yale Center for Mendelian Genomics, Yale University 1 1 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 1 0 2
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 1 0 1 0 2
Johns Hopkins Genomics, Johns Hopkins University 1 0 1 0 2
NxGen MDx 0 2 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 1 1 0 0 2
Genetic Services Laboratory, University of Chicago 1 0 0 0 1
Courtagen Diagnostics Laboratory, Courtagen Life Sciences 1 0 0 0 1
Counsyl 0 1 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 1 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 1
Biochemical Genetics Department, Cyprus Institute of Neurology and Genetics 1 0 0 0 1
DASA 0 1 0 0 1
Genetic Diagnostics Department, Viafet Genomics Laboratory 1 0 0 0 1
Dr.Nikuei Genetic Center 1 0 0 0 1
Genetics Department, Catlab 1 0 0 0 1

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