ClinVar Miner

Variants in gene ARSB

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 total
55 83 166 24 34 333

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Mucopolysaccharidosis type VI 45 78 158 18 15 303
not provided 13 5 11 5 21 53
not specified 0 0 1 2 9 12
Mucopolysaccharidosis, type vi, severe 5 0 0 0 0 5
Metachromatic leukodystrophy 3 1 0 0 0 4
Mucopolysaccharidosis, type vi, intermediate 1 0 0 0 0 1
Mucopolysaccharidosis, type vi, mild 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Laboratory of Diagnosis and Therapy of Lysosomal Disorders,University of Padova 33 74 89 1 5 202
Illumina Clinical Services Laboratory,Illumina 2 0 67 17 8 94
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 7 1 7 1 7 23
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 4 3 8 15
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 13 13
OMIM 12 0 0 0 0 12
GeneDx 5 4 0 0 1 10
PreventionGenetics 0 0 0 1 7 8
Integrated Genetics/Laboratory Corporation of America 5 1 1 1 0 8
Invitae 0 1 4 0 3 8
Medical Molecular Genetics,National Research Centre 8 0 0 0 0 8
SIB Swiss Institute of Bioinformatics 0 3 0 0 1 4
Fulgent Genetics 1 0 1 0 0 2
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1 0 0 1 0 2
Molecular Diagnostics Laboratory,M Health: University of Minnesota 1 1 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 1 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 1
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 1 0 0 0 1
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 1 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 1 0 0 0 0 1
Department of Medical Genetics,Ahvaz Jundishapur University of Medical Sciences 0 1 0 0 0 1

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