ClinVar Miner

Submissions for variant NM_000203.5(IDUA):c.352C>T (p.Leu118=) (rs3755954)

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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000078392 SCV000110238 benign not specified 2018-05-25 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000078392 SCV000302977 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000344018 SCV000451769 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.
Invitae RCV000344018 SCV001723459 benign Mucopolysaccharidosis type 1 2020-11-26 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001543811 SCV001762681 benign Hurler syndrome 2021-07-10 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001543812 SCV001762682 benign Mucopolysaccharidosis, MPS-I-H/S 2021-07-10 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001543813 SCV001762683 benign Mucopolysaccharidosis, MPS-I-S 2021-07-10 criteria provided, single submitter clinical testing
GeneDx RCV000675600 SCV001902237 benign not provided 2018-08-31 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 9700243, 12509712, 19396826)
Mayo Clinic Laboratories, Mayo Clinic RCV000675600 SCV000801296 benign not provided 2015-10-20 no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000078392 SCV001743917 benign not specified no assertion criteria provided clinical testing
Clinical Genetics,Academic Medical Center RCV000078392 SCV001924544 benign not specified no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000078392 SCV001959907 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000078392 SCV001972515 benign not specified no assertion criteria provided clinical testing

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