ClinVar Miner

Variants in gene ARSB

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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
87 92 231 84 55 498

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Mucopolysaccharidosis type 6 80 86 220 75 30 453
not provided 14 5 15 12 30 75
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
Inborn genetic diseases 1 1 0 0 0 2
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: 33
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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
Invitae 42 8 26 68 9 153
Illumina Clinical Services Laboratory,Illumina 2 0 104 10 20 136
Natera, Inc. 6 1 13 5 5 30
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 7 1 7 1 7 23
GeneDx 5 4 0 0 11 20
Integrated Genetics/Laboratory Corporation of America 11 3 1 0 1 16
Mayo Clinic 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
Medical Molecular Genetics Department, National Research Center 8 0 0 0 0 8
CeGaT Praxis fuer Humangenetik Tuebingen 2 0 2 0 0 4
SIB Swiss Institute of Bioinformatics 0 3 0 0 1 4
Baylor Genetics 1 0 1 0 0 2
Ambry Genetics 1 1 0 0 0 2
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 Fairview: University of Minnesota 1 1 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 1 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 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
Department of Molecular and Human Genetics, Baylor College of Medicine 1 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 1
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 1 0 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 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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