Variants studied for Gaucher disease perinatal lethal

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
34	6	15	6	2	2	62

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	32	6	12	6	2	2	57
GBA1	2	0	3	0	0	0	5

Submitter and significance breakdown #

Total submitters: 12

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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
Genome-Nilou Lab	0	0	0	2	2	0	4
Baylor Genetics	1	0	1	0	0	0	2
Genomic Research Center, Shahid Beheshti University of Medical Sciences	1	0	0	0	0	0	1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS	1	0	0	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
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology	0	0	1	0	0	0	1
Lifecell International Pvt. Ltd	1	0	0	0	0	0	1
GenomeConnect - Brain Gene Registry	0	0	0	0	0	1	1

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