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
91 39 132 271 43 4 1 529

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 72 31 103 239 32 2 1 442
IDUA, SLC26A1 19 8 29 32 11 2 0 87

Submitter and significance breakdown #

Total submitters: 11
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Invitae 82 20 61 269 35 4 0 471
Illumina Clinical Services Laboratory,Illumina 2 0 52 1 21 0 0 76
Natera, Inc. 12 2 37 8 4 0 0 63
Broad Institute Rare Disease Group, Broad Institute 19 8 2 1 2 0 0 32
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 23 7 0 0 0 0 0 30
GeneReviews 15 0 0 0 3 0 0 18
Laboratory of Diagnosis and Therapy of Lysosomal Disorders,University of Padova 1 5 1 0 0 0 0 7
Laboratory for Molecular Medicine, Partners HealthCare 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
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 1 1

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