Variants studied for Mucopolysaccharidosis type 1

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)

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	other	not provided	total
265	191	417	829	53	4	18	1608

Gene and significance breakdown #

Total genes and gene combinations: 10

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	other	not provided	total
IDUA	209	164	349	740	44	2	14	1380
IDUA, SLC26A1	43	26	68	89	9	2	4	214
GLB1	4	0	0	0	0	0	0	4
ARSB, LOC129994126	1	1	0	0	0	0	0	2
NAGLU	2	0	0	0	0	0	0	2
SGSH	2	0	0	0	0	0	0	2
ARSB	1	0	0	0	0	0	0	1
GALNS	1	0	0	0	0	0	0	1
GUSB	1	0	0	0	0	0	0	1
HGSNAT	1	0	0	0	0	0	0	1

Submitter and significance breakdown #

Total submitters: 19

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	other	not provided	total
Labcorp Genetics (formerly Invitae), Labcorp	221	71	269	816	42	4	0	1423
Natera, Inc.	77	78	130	34	31	0	0	350
ClinGen Lysosomal Storage Disorder Variant Curation Expert Panel	73	48	39	8	18	0	0	186
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	49	27	0	0	0	0	0	76
Illumina Laboratory Services, Illumina	3	0	47	1	21	0	0	72
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	19	9	1	1	2	0	0	32
GeneReviews	1	0	0	0	0	0	17	18
Dasa	15	1	0	0	0	0	0	16
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova	1	5	1	0	0	0	0	7
Myriad Genetics, Inc.	2	3	0	0	0	0	0	5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	3	0	1	0	0	0	0	4
Baylor Genetics	0	0	2	0	0	0	0	2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	2	0	0	0	0	0	0	2
Pangenia Genomics, Pangenia Inc.	0	0	2	0	0	0	0	2
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill	2	0	0	0	0	0	0	2
CENTOGENE GmbH and LLC - Guiding Precision Medicine	1	0	0	0	0	0	0	1
GenomeConnect, ClinGen	0	0	0	0	0	0	1	1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India	1	0	0	0	0	0	0	1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego	1	0	0	0	0	0	0	1

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