ClinVar Miner

Submissions for variant NM_000203.5(IDUA):c.942G>C (p.Ala314=) (rs6830825)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 12
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000078400 SCV000110246 benign not specified 2015-12-11 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000078400 SCV000302983 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000331543 SCV000451780 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 RCV000331543 SCV001730206 benign Mucopolysaccharidosis type 1 2020-11-25 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001543826 SCV001762696 benign Hurler syndrome 2021-07-10 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001543873 SCV001762761 benign Mucopolysaccharidosis, MPS-I-H/S 2021-07-10 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001543874 SCV001762762 benign Mucopolysaccharidosis, MPS-I-S 2021-07-10 criteria provided, single submitter clinical testing
GeneDx RCV000675606 SCV001898599 benign not provided 2018-07-05 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000675606 SCV000801303 benign not provided 2016-02-02 no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000078400 SCV001740112 benign not specified no assertion criteria provided clinical testing
Clinical Genetics,Academic Medical Center RCV000078400 SCV001919713 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000078400 SCV001963974 benign not specified no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.