ClinVar Miner

Variants in gene IDUA

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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 other not provided total
188 157 439 707 53 2 15 1383

Condition and significance breakdown #

Total conditions: 15
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Condition pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Mucopolysaccharidosis type 1 165 80 272 682 44 2 14 1171
not provided 49 31 203 23 31 0 1 322
Hurler syndrome 38 51 42 4 13 0 0 146
Inborn genetic diseases 4 0 31 34 0 0 0 69
not specified 0 0 24 2 26 0 0 51
Mucopolysaccharidosis, MPS-I-H/S 10 24 0 0 13 0 0 47
IDUA-related condition 2 2 4 9 1 0 0 18
Mucopolysaccharidosis, MPS-I-S; Hurler syndrome; Mucopolysaccharidosis, MPS-I-H/S 8 3 6 0 0 0 0 17
Mucopolysaccharidosis, MPS-I-S 2 0 2 0 12 0 0 16
See cases 2 0 0 0 0 0 0 2
IDUA pseudodeficiency 1 0 0 0 0 0 0 1
Interstitial pneumonitis 1 0 0 0 0 0 0 1
Mucopolysaccharidosis, MPS-II 0 0 1 0 0 0 0 1
Mucopolysaccharidosis, MPS-IV-A 1 0 0 0 0 0 0 1
Mucopolysacchariduria 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 65
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Invitae 162 52 213 674 34 2 0 1137
Revvity Omics, Revvity 34 22 181 0 0 0 0 237
Natera, Inc. 36 5 66 27 27 0 0 161
Counsyl 23 38 35 3 0 0 0 99
GeneDx 9 8 20 11 30 0 1 79
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 30 15 22 0 7 0 0 74
Ambry Genetics 4 0 31 34 0 0 0 69
Illumina Laboratory Services, Illumina 1 0 38 1 15 0 0 55
Eurofins Ntd Llc (ga) 16 4 12 0 17 0 0 49
PreventionGenetics, part of Exact Sciences 2 2 4 10 19 0 0 37
Mayo Clinic Laboratories, Mayo Clinic 2 0 6 6 11 0 0 25
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 14 6 1 1 2 0 0 24
Myriad Genetics, Inc. 2 21 0 0 0 0 0 23
OMIM 17 0 0 0 0 0 0 17
Fulgent Genetics, Fulgent Genetics 8 3 6 0 0 0 0 17
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 4 0 0 1 12 0 0 17
Clinical Genetics, Academic Medical Center 0 0 0 3 12 0 0 15
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 2 0 1 1 10 0 0 14
GeneReviews 0 0 0 0 0 0 13 13
Genome-Nilou Lab 0 0 0 0 13 0 0 13
CeGaT Center for Human Genetics Tuebingen 2 0 4 5 0 0 0 11
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 1 0 3 4 0 0 9
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 6 2 0 0 0 0 0 8
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova 1 5 1 0 0 0 0 7
Baylor Genetics 3 0 3 0 0 0 0 6
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 3 2 0 0 0 0 5
Mendelics 0 1 2 1 0 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 3 1 0 0 0 0 0 4
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 1 3 0 0 0 4
3billion 1 2 0 0 0 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 1 1 0 0 2
MGZ Medical Genetics Center 1 1 0 0 0 0 0 2
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 2 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 1 0 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 0 2
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 2 0 0 0 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 1 1 0 0 0 0 0 2
NxGen MDx 0 2 0 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 0 0 0 0 0 0 2
Pangenia Genomics, Pangenia Inc. 0 0 2 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 0 1 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 1 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 1 0 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 0 0 1
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 1 0 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 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 1 0 0 0 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 1 0 0 0 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 0 1 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 0 1
Ege University Pediatric Genetics, Ege University 0 0 1 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 1 1
SingHealth Duke-NUS Institute of Precision Medicine 0 0 1 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 1 0 0 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 1 0 0 0 0 0 0 1
Pars Genome Lab 0 0 0 0 1 0 0 1
Department of Ophthalmology, Southwest Medical University 1 0 0 0 0 0 0 1
Molecular Biology Laboratory, Department of Zoology, Quaid-i-azam University 1 0 0 0 0 0 0 1

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