ClinVar Miner

Submissions for variant NM_000203.5(IDUA):c.1081G>A (p.Ala361Thr) (rs6831280)

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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 RCV000078371 SCV000110217 benign not specified 2017-11-02 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000078371 SCV000302963 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000332794 SCV000451783 benign Mucopolysaccharidosis type 1 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.
Invitae RCV000332794 SCV001730207 benign Mucopolysaccharidosis type 1 2020-11-25 criteria provided, single submitter clinical testing
Pars Genome Lab RCV001526424 SCV001736788 benign Hurler syndrome 2021-05-18 criteria provided, single submitter clinical testing
GeneReviews RCV000332794 SCV000264384 pathogenic Mucopolysaccharidosis type 1 2016-02-11 no assertion criteria provided literature only
Mayo Clinic Laboratories, Mayo Clinic RCV000675607 SCV000801304 benign not provided 2016-01-29 no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000078371 SCV001744488 benign not specified no assertion criteria provided clinical testing

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