ClinVar Miner

Variants in gene ARSB

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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 total
105 116 262 248 75 710

Condition and significance breakdown #

Total conditions: 11
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Mucopolysaccharidosis type 6 104 114 245 234 36 655
not provided 12 5 16 14 52 96
Inborn genetic diseases 1 1 12 0 0 14
not specified 0 0 5 1 8 14
ARSB-related condition 2 0 0 2 1 5
Metachromatic leukodystrophy 3 0 0 0 0 3
Mucopolysaccharidosis, type vi, severe 3 0 0 0 0 3
Mucopolysaccharidosis, type vi, intermediate 1 0 0 0 0 1
Mucopolysaccharidosis, type vi, mild 1 0 0 0 0 1
Schizophrenia 0 0 1 0 0 1
See cases 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 46
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 86 31 75 224 20 436
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova 25 54 67 1 3 150
Illumina Laboratory Services, Illumina 2 0 98 9 20 129
GeneDx 7 3 3 8 39 60
Baylor Genetics 31 25 1 0 0 57
Natera, Inc. 10 0 19 5 8 42
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 16 8 4 0 0 28
Revvity Omics, Revvity 4 7 11 0 0 22
Eurofins Ntd Llc (ga) 5 1 6 1 6 19
Ambry Genetics 1 1 12 0 0 14
Mayo Clinic Laboratories, Mayo Clinic 1 0 4 1 8 14
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center 0 0 0 0 13 13
PreventionGenetics, part of Exact Sciences 2 0 0 2 8 12
OMIM 9 0 0 0 0 9
Fulgent Genetics, Fulgent Genetics 5 1 3 0 0 9
CeGaT Center for Human Genetics Tuebingen 3 0 2 4 0 9
Pars Genome Lab 0 0 0 0 6 6
Mendelics 4 0 1 0 0 5
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 3 1 1 0 0 5
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 2 0 0 0 3 5
Genome-Nilou Lab 0 2 2 1 0 5
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 0 0 3 4
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 0 2 0 2 0 4
SIB Swiss Institute of Bioinformatics 0 2 0 0 1 3
Bionano Laboratories 0 0 2 0 0 2
Medical Molecular Genetics Department, National Research Center 2 0 0 0 0 2
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 2 0 0 0 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
3billion 1 1 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 1
MGZ Medical Genetics Center 1 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 1
Blueprint Genetics 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
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
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 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, Sultan Qaboos University 1 0 0 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 1 0 0 0 0 1
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 0 1 0 0 0 1
Genetic Diagnostics Department, Viafet Genomics Laboratory 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 1
Department of Psychiatry, The University of Hong Kong 0 0 1 0 0 1

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