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
224 129 350 806 53 4 18 1448

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 184 114 286 719 44 2 14 1249
IDUA, SLC26A1 40 15 64 87 9 2 4 199

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Labcorp Genetics (formerly Invitae), Labcorp 211 67 265 794 42 4 0 1383
Natera, Inc. 45 5 77 33 31 0 0 191
ClinGen Lysosomal Storage Disorder Variant Curation Expert Panel 43 34 16 8 18 0 0 119
Illumina Laboratory Services, Illumina 3 0 52 1 21 0 0 77
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 47 23 0 0 0 0 0 70
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
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
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 AG - the Rare Disease Company 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
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 0 0 1

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