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
149 157 299 334 41 873

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
ARSB 104 114 245 234 36 655
ARSB, LOC129994126 40 43 54 100 5 213
GUSB 2 0 0 0 0 2
AP3B1, ARSB, LHFPL2, SCAMP1 1 0 0 0 0 1
ARSB, LOC123497917, LOC129994124, LOC129994125 1 0 0 0 0 1
ARSB, LOC129994124, LOC129994125 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 38
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 112 44 93 319 25 593
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova 33 74 89 1 5 202
Illumina Laboratory Services, Illumina 2 0 104 10 20 136
Baylor Genetics 38 30 1 0 0 69
Natera, Inc. 11 1 25 10 10 57
Revvity Omics, Revvity 6 8 14 0 0 28
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 17 11 0 0 0 28
Fulgent Genetics, Fulgent Genetics 6 2 6 1 1 16
Medical Molecular Genetics Department, National Research Center 8 0 0 0 0 8
Genome-Nilou Lab 0 2 4 1 1 8
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 5 1 1 0 0 7
Pars Genome Lab 0 0 0 0 6 6
OMIM 5 0 0 0 0 5
Mendelics 4 0 0 0 1 5
SIB Swiss Institute of Bioinformatics 0 3 0 0 1 4
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 0 2 0 2 0 4
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
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 2 0 0 2
3billion 1 1 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 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
Centogene AG - the Rare Disease Company 1 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 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
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
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 1 0 0 0 0 1
Department of Medical Genetics, Ahvaz Jundishapur University of Medical Sciences 0 1 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 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
Molecular Genetics, Royal Melbourne Hospital 0 1 0 0 0 1

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