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
67	33	27	4	6	23	135

Gene and significance breakdown #

Total genes and gene combinations: 5

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
GBA1, LOC106627981	63	32	23	4	5	21	125
GBA1	3	1	2	0	1	2	7
ELP1	0	0	1	0	0	0	1
PRX	1	0	0	0	0	0	1
SMPD1	0	0	1	0	0	0	1

Submitter and significance breakdown #

Total submitters: 16

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	66	23	0	0	0	0	89
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
Department of Pathology and Laboratory Medicine, Sinai Health System	3	1	3	0	0	0	7
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	3	0	0	0	0	0	3
Illumina Laboratory Services, Illumina	2	0	1	0	0	0	3
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
Molecular Genetics, Royal Melbourne Hospital	1	0	0	0	0	0	1

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