ClinVar Miner

Variants studied for Hurler-Scheie syndrome

Included ClinVar conditions (3):
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 total
40 69 18 0 16 141

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance benign total
IDUA 31 59 12 13 113
IDUA, SLC26A1 9 10 6 3 28

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance benign total
Fulgent Genetics, Fulgent Genetics 29 39 13 0 81
Myriad Genetics, Inc. 1 24 0 0 25
Genome-Nilou Lab 0 0 0 15 15
OMIM 9 0 0 0 9
Neuberg Centre For Genomic Medicine, NCGM 2 5 0 0 7
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 2 0 3
Baylor Genetics 1 0 1 0 2
MGZ Medical Genetics Center 1 1 0 0 2
Division of Human Genetics, Children's Hospital of Philadelphia 2 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 2 0 0 0 2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 0 1 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 0 1 1
Ege University Pediatric Genetics, Ege University 0 0 1 0 1
Department of Ophthalmology, Southwest Medical University 1 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 1 0 0 0 1
Royal Medical Services, Bahrain Defence Force Hospital 1 0 0 0 1

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