Variants studied for Mucopolysaccharidosis, MPS-IV-B

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
28	17	38	12	16	1	105

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
GLB1	26	17	35	11	13	1	96
GLB1, LOC129936434, TMPPE	2	0	3	1	3	0	9

Submitter and significance breakdown #

Total submitters: 14

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Illumina Laboratory Services, Illumina	0	0	33	9	8	0	50
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	14	6	0	0	0	0	20
Pars Genome Lab	0	0	0	3	12	0	15
OMIM	10	0	0	0	0	0	10
Counsyl	4	6	0	0	0	0	10
Genome-Nilou Lab	0	0	4	0	3	0	7
MGZ Medical Genetics Center	0	2	1	0	0	0	3
Genomic Research Center, Shahid Beheshti University of Medical Sciences	2	0	0	0	0	0	2
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova	1	1	0	0	0	0	2
Mendelics	0	0	1	0	0	0	1
GenomeConnect, ClinGen	0	0	0	0	0	1	1
Johns Hopkins Genomics, Johns Hopkins University	1	0	0	0	0	0	1
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics	0	1	0	0	0	0	1
Department Of Obstetrics And Gynecology, Genetic And Prenatal Diagnosis Center	0	1	0	0	0	0	1

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