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
96 77 156 154 39 2 2 456

Condition and significance breakdown #

Total conditions: 10
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Condition pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Mucopolysaccharidosis type 1 72 31 103 127 29 2 1 333
Hurler syndrome 35 43 40 4 0 0 0 121
not provided 19 6 21 31 14 0 1 91
not specified 0 0 9 2 25 0 0 35
Mucopolysaccharidosis, MPS-I-H/S 7 6 0 0 0 0 0 13
Inborn genetic diseases 3 0 1 0 0 0 0 4
Mucopolysaccharidosis, MPS-I-S 2 0 2 0 0 0 0 4
Mucopolysaccharidosis, MPS-I-S; Hurler syndrome; Mucopolysaccharidosis, MPS-I-H/S 2 0 0 0 0 0 0 2
IDUA pseudodeficiency 1 0 0 0 0 0 0 1
none provided 0 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 39
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Invitae 65 16 50 141 12 2 0 286
Counsyl 24 38 35 3 0 0 0 100
Illumina Clinical Services Laboratory,Illumina 1 0 37 1 15 0 0 54
Natera, Inc. 8 2 32 7 4 0 0 53
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 16 4 12 0 17 0 0 49
Integrated Genetics/Laboratory Corporation of America 16 5 7 0 5 0 0 33
Broad Institute Rare Disease Group, Broad Institute 14 6 1 1 2 0 0 24
Mayo Clinic Laboratories, Mayo Clinic 1 0 3 6 11 0 0 21
PreventionGenetics, PreventionGenetics 0 0 0 1 18 0 0 19
OMIM 17 0 0 0 0 0 0 17
GeneDx 3 2 5 1 3 0 1 15
GeneReviews 10 0 0 0 1 0 0 11
Laboratory of Diagnosis and Therapy of Lysosomal Disorders,University of Padova 1 5 1 0 0 0 0 7
Myriad Women's Health, Inc. 1 6 0 0 0 0 0 7
Baylor Genetics 3 0 2 0 0 0 0 5
Ambry Genetics 3 0 1 0 0 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 3 1 0 0 0 0 0 4
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 0 1 1 0 0 2
Mendelics 0 0 1 1 0 0 0 2
Fulgent Genetics,Fulgent Genetics 2 0 0 0 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 1 0 0 0 0 2
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 2 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
Laboratory for Molecular Medicine,Partners HealthCare 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
Centogene AG - the Rare Disease Company 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
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 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
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 for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 1 0 0 0 0 0 0 1

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