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
172 188 306 350 41 922

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 121 137 248 245 36 691
ARSB, LOC129994126 46 51 58 105 5 226
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: 43
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 126 45 99 334 25 629
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova 33 74 89 1 5 202
Illumina Laboratory Services, Illumina 2 1 103 10 20 136
Baylor Genetics 45 46 1 0 0 92
Natera, Inc. 11 1 25 10 10 57
Fulgent Genetics, Fulgent Genetics 15 22 7 1 1 46
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 29 15 0 0 0 44
Revvity Omics, Revvity 6 8 14 0 0 28
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 7 1 1 0 0 9
Medical Molecular Genetics Department, National Research Center 8 0 0 0 0 8
Genome-Nilou Lab 0 2 4 1 1 8
Pars Genome Lab 0 0 0 0 6 6
OMIM 5 0 0 0 0 5
Mendelics 4 0 0 0 1 5
Neuberg Centre For Genomic Medicine, NCGM 2 1 2 0 0 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
3billion 1 2 0 1 0 4
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 2 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 0 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 1 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
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
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
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 1 0 0 0 0 1
Department of Medical Genetics, Ahvaz Jundishapur University of Medical Sciences 0 1 0 0 0 1
Precision Medical Center, Wuhan Children's Hospital 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
Breakthrough Genomics, Breakthrough Genomics 0 1 0 0 0 1
MVZ Medizinische Genetik Mainz 1 0 0 0 0 1
Dr.Nikuei Genetic Center 1 0 0 0 0 1

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