ClinVar Miner

Submissions for variant NM_000203.5(IDUA):c.590-8C>T (rs6848974)

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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 RCV000078396 SCV000110242 benign not specified 2017-11-02 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000078396 SCV000302981 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000404425 SCV000451773 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000589331 SCV000695974 benign not provided 2016-01-15 criteria provided, single submitter clinical testing
Invitae RCV000404425 SCV001730205 benign Mucopolysaccharidosis type 1 2020-11-25 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001543820 SCV001762690 benign Hurler syndrome 2021-07-10 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001543821 SCV001762691 benign Mucopolysaccharidosis, MPS-I-H/S 2021-07-10 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001543822 SCV001762692 benign Mucopolysaccharidosis, MPS-I-S 2021-07-10 criteria provided, single submitter clinical testing
GeneDx RCV000589331 SCV001851983 benign not provided 2018-07-05 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000589331 SCV000801299 benign not provided 2016-02-02 no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000078396 SCV001742134 benign not specified no assertion criteria provided clinical testing
Clinical Genetics,Academic Medical Center RCV000078396 SCV001919603 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000078396 SCV001976122 benign not specified no assertion criteria provided clinical testing

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