ClinVar Miner

Variants studied for Hurler syndrome

Coded as:
Minimum submission review status: Collection method:
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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 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
Mendelics 1 1 1 2 2 0 7
3billion 4 2 1 0 0 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
Laboratory of Molecular Genetics, CHU Rennes 3 0 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
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 3 0 0 0 0 0 3
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 1 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 1 1 0 0 0 0 2
NxGen MDx 0 2 0 0 0 0 2
Myriad Genetics, Inc. 2 0 0 0 0 0 2
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 1 1 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 0 1 0 0 0 1
Natera, Inc. 1 0 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 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
Clinical Genomics Laboratory, Washington University in St. Louis 1 0 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
Department Of Genetics, Lifeline Super Speciality Hospital, Adoor. 1 0 0 0 0 0 1
SingHealth Duke-NUS Institute of Precision Medicine 0 0 1 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 1 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 0 1
Pars Genome Lab 0 0 0 0 1 0 1
Molecular Biology Laboratory, Department of Zoology, Quaid-i-azam University 1 0 0 0 0 0 1

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