ClinVar Miner

Variants studied for mucopolysaccharidosis type 6

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
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
160 173 299 335 41 887

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 113 125 245 235 36 668
ARSB, LOC129994126 42 48 54 100 5 214
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: 41
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 117 45 93 319 25 599
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 45 46 1 0 0 92
Natera, Inc. 11 1 25 10 10 57
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 21 12 0 0 0 33
Revvity Omics, Revvity 6 8 14 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
3billion 1 1 0 1 0 3
Neuberg Centre For Genomic Medicine, NCGM 1 2 0 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 0 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 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
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 2 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
Department of Medical Genetics, Ahvaz Jundishapur University of Medical Sciences 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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