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

gnomAD frequency: 0.34419  dbSNP: rs1065757

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000077997	SCV000109835	benign	not specified	2014-12-19	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000077997	SCV000301614	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, 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	2024-02-01	criteria provided, single submitter	clinical testing
Pars Genome Lab	RCV000352809	SCV001745258	benign	Mucopolysaccharidosis type 6	2021-06-19	criteria provided, single submitter	clinical testing
GeneDx	RCV000675205	SCV001865070	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 30335002, 27826022, 18406185)
Mayo Clinic Laboratories, Mayo Clinic	RCV000675205	SCV000800847	uncertain significance	not provided	2015-10-22	no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000077997	SCV001744461	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000077997	SCV001968000	benign	not specified		no assertion criteria provided	clinical testing
Natera, Inc.	RCV000352809	SCV002084971	benign	Mucopolysaccharidosis type 6	2019-11-19	no assertion criteria provided	clinical testing