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
53 51 77 21 28 2 1 204

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Dysostosis multiplex 31 38 36 3 0 0 0 108
Mucopolysaccharidosis type I 23 8 24 9 11 2 0 70
not provided 18 6 20 8 14 0 1 65
not specified 0 0 4 1 25 0 0 29
Mucopolysaccharidosis, MPS-I-H/S 6 0 0 0 0 0 0 6
Mucopolysaccharidosis, MPS-I-S 2 0 1 0 0 0 0 3
Mucopolysaccharidosis, MPS-I-S; Dysostosis multiplex; Mucopolysaccharidosis, MPS-I-H/S 2 0 0 0 0 0 0 2
IDUA pseudodeficiency 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Counsyl 24 36 35 3 0 0 0 98
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 16 4 12 0 17 0 0 49
Invitae 11 2 11 4 2 2 0 32
Illumina Clinical Services Laboratory,Illumina 1 0 13 5 8 0 0 27
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 1 0 3 6 11 0 0 21
PreventionGenetics 0 0 0 1 18 0 0 19
Integrated Genetics/Laboratory Corporation of America 11 1 2 0 5 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
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 1 1 0 0 2
Fulgent Genetics,Fulgent Genetics 2 0 0 0 0 0 0 2
Genomic Research Center,Shahid Beheshti University of Medical Sciences 1 1 0 0 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 0 0 0 0 1
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 1 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
Knight Diagnostic Laboratories,Oregon Health and Sciences University 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
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 1 0 0 0 0 1
Ege University Pediatric Genetics,Ege University 0 0 1 0 0 0 0 1
SingHealth Duke-NUS Institute of Precision Medicine 0 0 1 0 0 0 0 1
Molecular Diagnostics Laboratory,M Health: University of Minnesota 0 1 0 0 0 0 0 1

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