ClinVar Miner

Variants studied for Hurler syndrome

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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 total
56 64 56 36 18 1 224

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign other total
IDUA 47 56 47 4 14 0 164
IDUA, SLC26A1 9 7 9 32 4 1 59
PITX1 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 33
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign other total
Counsyl 27 44 44 34 0 1 150
Genome-Nilou Lab 0 0 0 0 14 0 14
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 9 4 0 0 0 0 13
OMIM 12 0 0 0 0 0 12
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 3 2 0 1 0 8
3billion 4 2 1 0 0 0 7
Mendelics 1 1 1 2 2 0 7
Neuberg Centre For Genomic Medicine, NCGM 1 2 2 0 0 0 5
Baylor Genetics 3 0 1 0 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 1 0 0 0 0 3
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 2 0 0 0 0 3
Laboratory of Molecular Genetics, CHU Rennes 3 0 0 0 0 0 3
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 3 0 0 0 0 0 3
Johns Hopkins Genomics, Johns Hopkins University 1 1 0 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 1 0 0 0 2
Myriad Genetics, Inc. 2 0 0 0 0 0 2
NxGen MDx 0 2 0 0 0 0 2
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 1 1 0 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 1 0 0 0 0 0 1
Department Of Genetics, Lifeline Super Speciality Hospital, Adoor. 1 0 0 0 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 0 1 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 1 0 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 1 0 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
Molecular Biology Laboratory, Department of Zoology, Quaid-i-azam University 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
Natera, Inc. 1 0 0 0 0 0 1
Pars Genome Lab 0 0 0 0 1 0 1
SingHealth Duke-NUS Institute of Precision Medicine 0 0 1 0 0 0 1
Unidad de Diagnostico y Tratamiento de Errores Congenitos del Metabolismo. Hospital Clínico Universitário de Santiago de Compostela 1 0 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 0 1

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