ClinVar Miner

Variants studied for Mucopolysaccharidosis type 6

Coded as:
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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
82 86 220 117 33 497

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
ARSB 79 86 220 117 33 494
GUSB 2 0 0 0 0 2
AP3B1, ARSB, LHFPL2, SCAMP1 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 24
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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 43 8 26 105 19 201
Illumina Clinical Services Laboratory,Illumina 2 0 104 10 20 136
Natera, Inc. 6 1 13 5 5 30
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 10 2 0 0 0 12
Medical Molecular Genetics Department, National Research Center 8 0 0 0 0 8
OMIM 5 0 0 0 0 5
SIB Swiss Institute of Bioinformatics 0 3 0 0 1 4
Fulgent Genetics,Fulgent Genetics 1 0 1 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
Baylor Genetics 0 0 1 0 0 1
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
Mayo Clinic 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
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 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
Nilou-Genome Lab 0 0 0 0 1 1

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