ClinVar Miner

Variants studied for Gaucher disease type I

Included ClinVar conditions (5):
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
60 45 20 4 2 1 120

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 not provided total
GBA1, LOC106627981 57 44 18 4 2 1 114
GBA1 3 0 2 0 0 0 5
MSH6 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 36
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Fulgent Genetics, Fulgent Genetics 23 6 10 4 0 0 43
OMIM 33 0 0 0 0 0 33
Baylor Genetics 21 10 2 0 0 0 31
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 8 10 0 0 0 0 18
Genome-Nilou Lab 1 3 7 0 2 0 13
Myriad Genetics, Inc. 6 3 0 0 0 0 9
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 5 3 0 0 0 0 8
Centogene AG - the Rare Disease Company 5 0 0 0 0 0 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 1 1 0 0 0 4
Department of Medical Biology, Faculty of Medicine, Hacettepe University 2 2 0 0 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 0 0 0 0 0 3
Illumina Laboratory Services, Illumina 3 0 0 0 0 0 3
Johns Hopkins Genomics, Johns Hopkins University 1 1 1 0 0 0 3
Department of Pediatrics, Division of Medical Genetics, Faculty of Medicine Ramathibodi Hospital, Mahidol University 1 1 1 0 0 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 2 0 0 0 0 0 2
Mendelics 0 0 2 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 2 0 0 0 0 0 2
Hadassah Hebrew University Medical Center 2 0 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 2 0 0 0 0 0 2
Yale Center for Mendelian Genomics, Yale University 1 1 0 0 0 0 2
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 1 0 1 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 0 0 0 0 0 2
NxGen MDx 0 2 0 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 1 1 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 1
PreventionGenetics, part of Exact Sciences 0 1 0 0 0 0 1
Courtagen Diagnostics Laboratory, Courtagen Life Sciences 1 0 0 0 0 0 1
Counsyl 0 1 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 1 0 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
Biochemical Genetics Department, Cyprus Institute of Neurology and Genetics 1 0 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 1
DASA 0 1 0 0 0 0 1
Genetic Diagnostics Department, Viafet Genomics Laboratory 1 0 0 0 0 0 1

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