ClinVar Miner

Variants in gene ARSB

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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
63 89 210 42 55 425

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Mucopolysaccharidosis type 6 53 84 199 29 30 378
not provided 13 5 14 12 30 73
not specified 0 0 1 2 10 13
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: 25
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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 0 104 10 20 136
Invitae 16 6 10 27 9 68
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 7 1 7 1 7 23
GeneDx 5 4 0 0 11 20
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 4 3 8 15
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics, Cincinnati Children's Hospital Medical Center 0 0 0 0 13 13
OMIM 12 0 0 0 0 12
PreventionGenetics,PreventionGenetics 0 0 0 1 7 8
Integrated Genetics/Laboratory Corporation of America 5 1 1 0 1 8
Medical Molecular Genetics Department, National Research Center 8 0 0 0 0 8
SIB Swiss Institute of Bioinformatics 0 3 0 0 1 4
CeGaT Praxis fuer Humangenetik Tuebingen 1 0 2 0 0 3
Lineagen, Inc 0 0 2 0 0 2
Fulgent Genetics,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
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 1 0 0 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
Mendelics 0 0 0 0 1 1
Unidad de Diagnostico y Tratamiento de Errores Congenitos del Metabolismo. Hospital Clínico Universitário de Santiago de Compostela 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 1
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 1 0 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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