ClinVar Miner

Variants studied for Mucopolysaccharidosis, MPS-I-H/S

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
12 27 0 0 16 55

Gene and significance breakdown #

Total genes and gene combinations: 2
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic benign total
IDUA 10 24 13 47
IDUA, SLC26A1 2 3 3 8

Submitter and significance breakdown #

Total submitters: 10
Download table as spreadsheet
Submitter pathogenic likely pathogenic benign total
Myriad Genetics, Inc. 1 24 0 25
Genome-Nilou Lab 0 0 15 15
OMIM 7 0 0 7
MGZ Medical Genetics Center 1 1 0 2
Broad Institute Rare Disease Group, Broad Institute 2 0 0 2
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 2 0 2
Division of Human Genetics, Children's Hospital of Philadelphia 1 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 1
Department of Ophthalmology, Southwest Medical University 1 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.