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
51 33 5 0 0 1 83

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance not provided total
GBA, LOC106627981 48 32 4 1 78
GBA 3 0 1 0 4
MSH6 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 25
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Submitter pathogenic likely pathogenic uncertain significance not provided total
OMIM 33 0 0 0 33
Baylor Genetics 22 9 0 0 31
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 2 9 0 0 11
Myriad Women's Health, Inc. 6 3 0 0 9
Broad Institute Rare Disease Group, Broad Institute 5 3 0 0 8
Fulgent Genetics,Fulgent Genetics 7 0 0 0 7
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
Department of Pediatrics, Division of Medical Genetics, Faculty of Medicine Ramathibodi Hospital, Mahidol University 1 1 1 0 3
Laboratory for Molecular Medicine,Partners HealthCare 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
Yale Center for Mendelian Genomics,Yale University 1 1 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 1 1 0 0 2
Genetic Services Laboratory, University of Chicago 1 0 0 0 1
PreventionGenetics, PreventionGenetics 0 1 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
GenomeConnect, ClinGen 0 0 0 1 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
NxGen MDx 0 1 0 0 1
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology 0 0 1 0 1

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