ClinVar Miner

Submissions for variant NM_000046.5(ARSB):c.979C>T (p.Arg327Ter) (rs773492223)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Diagnosis and Therapy of Lysosomal Disorders,University of Padova RCV000677617 SCV000803135 pathogenic Mucopolysaccharidosis type VI 2018-01-01 criteria provided, single submitter curation Nonsense variant (PVS1); In vitro functional studies supportive of a damaging effect on the gene product (low to no ARSB activity in homozygotes; PS3); Very low frequency in ExAc (PM2); Reputable source identifies as pathogenic (PP5)
Molecular Diagnostics Laboratory,M Health: University of Minnesota RCV000677617 SCV000891256 pathogenic Mucopolysaccharidosis type VI 2018-10-03 criteria provided, single submitter clinical testing
Department of Genetics,Sultan Qaboos University Hospital, Oman RCV000677617 SCV000891628 pathogenic Mucopolysaccharidosis type VI 2017-12-30 no assertion criteria provided curation

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.