ClinVar Miner

Variants studied for Gaucher disease type I

Included ClinVar conditions (2):
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 total
44 20 0 0 0 62

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic total
GBA, LOC106627981 41 18 57
GBA 3 1 4
MSH6 0 1 1

Submitter and significance breakdown #

Total submitters: 12
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Submitter pathogenic likely pathogenic total
OMIM 33 0 33
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 19 3 22
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 2 9 11
Counsyl 6 4 10
Fulgent Genetics 7 0 7
Genomic Research Center,Shahid Beheshti University of Medical Sciences 1 2 3
Knight Diagnostic Laboratories,Oregon Health and Sciences University 2 0 2
Yale Center for Mendelian Genomics,Yale University 1 1 2
Genetic Services Laboratory, University of Chicago 1 0 1
Courtagen Diagnostics Laboratory,Courtagen Life Sciences 1 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 1 0 1
Molecular Diagnostics Laboratory,M Health: University of Minnesota 0 1 1

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