ClinVar Miner

Variants studied for Mucopolysaccharidosis type 1

Coded as:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
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 other not provided total
203 93 332 767 53 4 18 1363

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 other not provided total
IDUA 165 80 272 682 44 2 14 1171
IDUA, SLC26A1 38 13 60 85 9 2 4 192

Submitter and significance breakdown #

Total submitters: 15
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Invitae 200 59 256 758 42 4 0 1319
Natera, Inc. 45 5 77 33 31 0 0 191
Illumina Laboratory Services, Illumina 3 0 53 1 21 0 0 78
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 37 18 0 0 0 0 0 55
Broad Institute Rare Disease Group, Broad Institute 19 9 1 1 2 0 0 32
GeneReviews 1 0 0 0 0 0 17 18
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova 1 5 1 0 0 0 0 7
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
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 2 0 0 0 0 0 0 2
Pangenia Genomics, Pangenia Inc. 0 0 2 0 0 0 0 2
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 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
GenomeConnect, ClinGen 0 0 0 0 0 0 1 1

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