ClinVar Miner

Variants studied for Gaucher disease type III

Coded as:
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
13 0 1 0 0 14

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic uncertain significance total
GBA1, LOC106627981 13 1 14

Submitter and significance breakdown #

Total submitters: 5
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Submitter pathogenic uncertain significance total
OMIM 12 0 12
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 1
3billion 1 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 0 1

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