ClinVar Miner

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

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Biochemistry Laboratory,Health Services Laboratory RCV000032682 SCV000239589 uncertain significance Primary hyperoxaluria, type I 2014-11-27 no assertion criteria provided in vitro
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000247828 SCV000343450 benign not specified 2016-06-26 criteria provided, single submitter clinical testing
GeneReviews RCV000032682 SCV000172448 benign Primary hyperoxaluria, type I 2014-07-17 no assertion criteria provided literature only
Illumina Clinical Services Laboratory,Illumina RCV000389779 SCV000429374 likely benign Primary hyperoxaluria 2016-06-14 criteria provided, single submitter clinical testing
OMIM RCV000032682 SCV000056445 benign Primary hyperoxaluria, type I 2004-09-01 no assertion criteria provided literature only
PreventionGenetics RCV000247828 SCV000301564 benign not specified criteria provided, single submitter clinical testing

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