ClinVar Miner

Variants studied for Gaucher disease perinatal lethal

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
35 9 18 7 2 2 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 benign not provided total
GBA1, LOC106627981 33 9 14 7 2 2 63
GBA1 2 0 4 0 0 0 6

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Fulgent Genetics, Fulgent Genetics 23 6 10 4 0 0 43
OMIM 12 0 0 0 0 0 12
Centre for Mendelian Genomics, University Medical Centre Ljubljana 5 1 3 0 0 0 9
Juno Genomics, Hangzhou Juno Genomics, Inc 4 3 1 0 0 0 8
Genome-Nilou Lab 0 0 0 2 2 0 4
Baylor Genetics 1 0 1 0 0 0 2
Hadassah Hebrew University Medical Center 2 0 0 0 0 0 2
Otogenetics 1 1 0 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 2 0 0 0 2
3billion 0 0 0 1 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 1 0 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 1
Lifecell International Pvt. Ltd 1 0 0 0 0 0 1

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