ClinVar Miner

Submissions for variant NM_000030.3(AGXT):c.1020A>G (p.Ile340Met) (rs4426527)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000247828 SCV000301564 benign not specified criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000247828 SCV000343450 benign not specified 2016-06-26 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000032682 SCV000429374 benign Primary hyperoxaluria, type I 2018-03-06 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.
Mendelics RCV000032682 SCV001136276 likely benign Primary hyperoxaluria, type I 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV001519689 SCV001728600 benign not provided 2020-11-25 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV000032682 SCV001761749 benign Primary hyperoxaluria, type I 2021-07-10 criteria provided, single submitter clinical testing
GeneDx RCV001519689 SCV001856932 benign not provided 2018-08-07 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 1703535, 33457257, 24205397, 30341509, 28906061, 15802217)
OMIM RCV000032682 SCV000056445 benign Primary hyperoxaluria, type I 2004-09-01 no assertion criteria provided literature only
GeneReviews RCV000032682 SCV000172448 benign Primary hyperoxaluria, type I 2014-07-17 no assertion criteria provided literature only
Clinical Biochemistry Laboratory,Health Services Laboratory RCV000032682 SCV000239589 uncertain significance Primary hyperoxaluria, type I 2014-11-27 no assertion criteria provided in vitro

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