ClinVar Miner

Submissions for variant NM_000046.5(ARSB):c.1126G>A (p.Val376Met)

gnomAD frequency: 0.12316  dbSNP: rs1071598
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000077998 SCV000109836 benign not specified 2014-12-19 criteria provided, single submitter clinical testing
Preventiongenetics, part of Exact Sciences RCV000077998 SCV000301615 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000385339 SCV000458382 benign Mucopolysaccharidosis type 6 2018-01-12 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.
GeneDx RCV000077998 SCV000512103 benign not specified 2016-06-15 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000385339 SCV001718908 benign Mucopolysaccharidosis type 6 2024-02-01 criteria provided, single submitter clinical testing
Pars Genome Lab RCV000385339 SCV001745257 benign Mucopolysaccharidosis type 6 2021-06-19 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000675204 SCV000800846 benign not provided 2015-10-22 no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000077998 SCV001741704 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000077998 SCV001970217 benign not specified no assertion criteria provided clinical testing

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