ClinVar Miner

Variants studied for Gaucher disease type II

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
36 20 12 4 0 1 69

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign not provided total
GBA1, LOC106627981 34 20 10 4 1 65
GBA1 2 0 2 0 0 4

Submitter and significance breakdown #

Total submitters: 12
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Submitter pathogenic likely pathogenic uncertain significance likely benign not provided total
Fulgent Genetics, Fulgent Genetics 23 6 10 4 0 43
Baylor Genetics 21 9 0 0 0 30
OMIM 11 0 0 0 0 11
Genome-Nilou Lab 0 0 3 0 0 3
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 2 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 1 0 0 0 2
PreventionGenetics, part of Exact Sciences 0 1 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
Johns Hopkins Genomics, Johns Hopkins University 0 1 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 1
Genetic Diagnostics Department, Viafet Genomics Laboratory 1 0 0 0 0 1

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