ClinVar Miner

Submissions for variant NM_000046.5(ARSB):c.1072G>A (p.Val358Met) (rs1065757)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000077997 SCV000109835 benign not specified 2014-12-19 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000077997 SCV000301614 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000352809 SCV000458384 benign Mucopolysaccharidosis type 6 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Laboratory of Diagnosis and Therapy of Lysosomal Disorders,University of Padova RCV000352809 SCV000802948 benign Mucopolysaccharidosis type 6 2018-01-01 criteria provided, single submitter curation Allele frequency > 5% in ExAC (BA1); Classified benign by a reputable source (BP6)
Invitae RCV000352809 SCV001729376 benign Mucopolysaccharidosis type 6 2020-11-25 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000675205 SCV000800847 uncertain significance not provided 2015-10-22 no assertion criteria provided clinical testing

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.