ClinVar Miner

Submissions for variant NM_000046.5(ARSB):c.1151G>A (p.Ser384Asn) (rs25414)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000077999 SCV000109837 benign not specified 2012-07-13 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000077999 SCV000301616 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000261664 SCV000458380 benign Mucopolysaccharidosis type 6 2018-03-06 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 RCV000261664 SCV000802961 benign Mucopolysaccharidosis type 6 2018-01-01 criteria provided, single submitter curation Allele frequency greater than expected for disorder (BS1); Homozygotes reported in ExAC (BS2); Classified benign by a reputable source (BP6)
SIB Swiss Institute of Bioinformatics RCV000261664 SCV000803562 benign Mucopolysaccharidosis type 6 2018-05-31 criteria provided, single submitter curation This variant is interpreted as a Benign, for Mucopolysaccharidosis type VI, in Autosomal Recessive manner. The following ACMG Tag(s) were applied: BS1 => Allele frequency is greater than expected for disorder. BS2 => Observed in a healthy adult individual for a recessive (homozygous), dominant (heterozygous), or X-linked (hemizygous) disorder, with full penetrance expected at an early age. BP4 => Multiple lines of computational evidence suggest no impact on gene or gene product (conservation, evolutionary, splicing impact, etc.). BS4 => Lack of segregation in affected members of a family (PMID:19259130).
Invitae RCV000261664 SCV001729375 benign Mucopolysaccharidosis type 6 2020-12-04 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000675202 SCV000800844 benign not provided 2015-12-16 no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000077999 SCV001743732 benign not specified no assertion criteria provided clinical testing

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