Variants studied for Gaucher disease

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		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
59	27	24	4	6	23	118

Gene and significance breakdown #

Total genes and gene combinations: 4

Download table as spreadsheet

Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
GBA1, LOC106627981	56	26	21	4	5	21	110
GBA1	3	1	1	0	1	2	6
ELP1	0	0	1	0	0	0	1
SMPD1	0	0	1	0	0	0	1

Submitter and significance breakdown #

Total submitters: 14

Download table as spreadsheet

Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	58	18	0	0	0	0	76
Natera, Inc.	32	4	16	4	6	0	62
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	21	7	8	0	1	0	37
GeneReviews	0	0	0	0	0	23	23
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	3	0	0	0	0	0	3
Illumina Laboratory Services, Illumina	1	0	1	0	0	0	2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego	2	0	0	0	0	0	2
GeneID Lab - Advanced Molecular Diagnostics	1	1	0	0	0	0	2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	0	1	0	0	0	0	1
Centogene AG - the Rare Disease Company	1	0	0	0	0	0	1
CSER _CC_NCGL, University of Washington	0	0	1	0	0	0	1
Genetics and Molecular Pathology, SA Pathology	1	0	0	0	0	0	1
GenomeConnect, ClinGen	0	0	0	0	0	1	1
DASA	1	0	0	0	0	0	1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.