ClinVar Miner

Variants studied for Mucopolysaccharidosis type VI

Coded as:
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
47 78 158 18 15 305

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
ARSB 45 78 158 18 15 303
GUSB 2 0 0 0 0 2

Submitter and significance breakdown #

Total submitters: 15
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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
Invitae 0 1 4 0 3 8
Medical Molecular Genetics,National Research Centre 8 0 0 0 0 8
OMIM 5 0 0 0 0 5
Integrated Genetics/Laboratory Corporation of America 4 0 0 0 0 4
SIB Swiss Institute of Bioinformatics 0 3 0 0 1 4
Fulgent Genetics 1 0 1 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
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 1 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
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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