ClinVar Miner

Submissions for variant NM_000203.5(IDUA):c.1230C>G (p.Thr410=) (rs115790973)

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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 RCV000078376 SCV000110222 benign not specified 2017-11-02 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000078376 SCV000302965 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000282790 SCV000451788 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 RCV000282790 SCV001730209 benign Mucopolysaccharidosis type 1 2020-11-25 criteria provided, single submitter clinical testing
GeneDx RCV000675610 SCV001945921 benign not provided 2018-08-29 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 16438163, 28649516)
Mayo Clinic Laboratories, Mayo Clinic RCV000675610 SCV000801308 likely benign not provided 2015-12-16 no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000078376 SCV001743473 benign not specified no assertion criteria provided clinical testing
Clinical Genetics,Academic Medical Center RCV000675610 SCV001920929 likely benign not provided no assertion criteria provided clinical testing

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