ClinVar Miner

Submissions for variant NM_000203.5(IDUA):c.543T>C (p.Asn181=) (rs6815946)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000078395 SCV000110241 benign not specified 2017-11-02 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000078395 SCV000302979 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000340349 SCV000451772 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 RCV000340349 SCV001730204 benign Mucopolysaccharidosis type 1 2020-11-25 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001543814 SCV001762684 benign Hurler syndrome 2021-07-10 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001543815 SCV001762685 benign Mucopolysaccharidosis, MPS-I-H/S 2021-07-10 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001543816 SCV001762686 benign Mucopolysaccharidosis, MPS-I-S 2021-07-10 criteria provided, single submitter clinical testing
GeneDx RCV000675602 SCV001939371 benign not provided 2018-07-05 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000675602 SCV000801298 benign not provided 2016-02-02 no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000078395 SCV001741832 benign not specified no assertion criteria provided clinical testing
Clinical Genetics,Academic Medical Center RCV000078395 SCV001917797 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000078395 SCV001967384 benign not specified no assertion criteria provided clinical testing

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