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
51 58 54 36 18 1 213

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 42 51 45 4 14 0 154
IDUA, SLC26A1 9 6 9 32 4 1 58
PITX1 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 31
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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
OMIM 12 0 0 0 0 0 12
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 9 2 0 0 0 0 11
Mendelics 1 1 1 2 2 0 7
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 2 1 2 0 1 0 6
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
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 3 0 0 0 0 0 3
3billion 1 2 0 0 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 0 1 2 0 0 0 3
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 1 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 2 0 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
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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