ClinVar Miner

Variants studied for Hurler-Scheie syndrome

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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 not provided total
41 71 19 0 16 1 143

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance benign not provided total
IDUA 32 61 13 13 1 115
IDUA, SLC26A1 9 10 6 3 0 28

Submitter and significance breakdown #

Total submitters: 27
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Submitter pathogenic likely pathogenic uncertain significance benign not provided total
Fulgent Genetics, Fulgent Genetics 29 39 13 0 0 81
Myriad Genetics, Inc. 1 24 0 0 0 25
Genome-Nilou Lab 0 0 0 15 0 15
OMIM 9 0 0 0 0 9
Neuberg Centre For Genomic Medicine, NCGM 2 5 0 0 0 7
Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust, North Thames Genomic Laboratory Hub 3 0 0 0 0 3
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 2 0 0 3
3billion 1 0 1 0 0 2
Baylor Genetics 1 0 1 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 2 0 0 0 0 2
Division of Human Genetics, Children's Hospital of Philadelphia 2 0 0 0 0 2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 0 1 0 0 2
MGZ Medical Genetics Center 1 1 0 0 0 2
Breakthrough Genomics, Breakthrough Genomics 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 0 1 0 1
Dasa 1 0 0 0 0 1
Department of Molecular Genetics, Istishari Arab Hospital 0 1 0 0 0 1
Department of Ophthalmology, Southwest Medical University 1 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 1
Ege University Pediatric Genetics, Ege University 0 0 1 0 0 1
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 1 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 1 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 1
Royal Medical Services, Bahrain Defence Force Hospital 1 0 0 0 0 1

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