ClinVar Miner

Variants studied for Gaucher disease

Included ClinVar conditions (12):
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
77 35 5 0 1 1 111

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance benign not provided total
GBA, LOC106627981 67 33 5 1 1 99
PSAP 6 0 0 0 0 6
GBA 4 1 0 0 0 5
MSH6 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 25
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Submitter pathogenic likely pathogenic uncertain significance benign not provided total
OMIM 52 0 0 0 0 52
Integrated Genetics/Laboratory Corporation of America 26 7 0 0 0 33
Baylor Genetics 22 9 0 0 0 31
GeneReviews 19 0 0 0 0 19
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 2 11 1 0 0 13
Counsyl 6 4 0 0 0 10
Fulgent Genetics,Fulgent Genetics 7 0 0 0 0 7
Genomic Research Center, Shahid Beheshti University of Medical Sciences 3 2 0 0 0 5
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 2 1 0 0 0 3
Mendelics 0 0 2 0 0 2
Knight Diagnostic Laboratories,Oregon Health and Sciences University 2 0 0 0 0 2
Yale Center for Mendelian Genomics,Yale University 1 1 0 0 0 2
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 1
PreventionGenetics,PreventionGenetics 0 1 0 0 0 1
Courtagen Diagnostics Laboratory,Courtagen Life Sciences 1 0 0 0 0 1
Illumina Clinical Services Laboratory,Illumina 1 0 0 0 0 1
CSER _CC_NCGL, University of Washington 0 0 1 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 1 0 0 0 0 1
Donald Williams Parsons Laboratory,Baylor College of Medicine 1 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 1 1
Molecular Diagnostics Laboratory, M Health: University of Minnesota 0 1 0 0 0 1
Natera Inc 0 0 0 1 0 1
Biochemical Genetics Department,Cyprus Institute of Neurology and Genetics 1 0 0 0 0 1
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology 0 0 1 0 0 1

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