ClinVar Miner

Variants studied for Mucopolysaccharidosis type 6

Coded as:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

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
149 155 299 334 41 872

Gene and significance breakdown #

Total genes and gene combinations: 6
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
ARSB 104 114 245 234 36 655
ARSB, LOC129994126 40 41 54 100 5 212
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: 36
Download table as spreadsheet
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 Omics 6 8 14 0 0 28
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 17 10 0 0 0 27
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 Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 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
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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.