ClinVar Miner

Submissions for variant NM_000203.5(IDUA):c.314G>A (p.Arg105Gln) (rs3755955)

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Total submissions: 14
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000078391 SCV000110237 benign not specified 2015-12-11 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000078391 SCV000302976 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000289071 SCV000451768 benign Mucopolysaccharidosis type 1 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.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001282688 SCV000604008 benign none provided 2020-08-25 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000590281 SCV000695972 benign not provided 2016-01-15 criteria provided, single submitter clinical testing
Invitae RCV000289071 SCV001730203 benign Mucopolysaccharidosis type 1 2020-11-25 criteria provided, single submitter clinical testing
GeneDx RCV000590281 SCV001753000 benign not provided 2018-07-05 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 31473686, 26256109, 21462124, 19396826, 9536518, 21639919, 24053568, 24875751)
Nilou-Genome Lab RCV001543713 SCV001762537 benign Hurler syndrome 2021-07-10 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001543714 SCV001762538 benign Mucopolysaccharidosis, MPS-I-H/S 2021-07-10 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001543715 SCV001762539 benign Mucopolysaccharidosis, MPS-I-S 2021-07-10 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000590281 SCV000801295 benign not provided 2016-02-03 no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000078391 SCV001740580 benign not specified no assertion criteria provided clinical testing
Clinical Genetics,Academic Medical Center RCV000078391 SCV001920213 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000078391 SCV001968446 benign not specified no assertion criteria provided clinical testing

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