ClinVar Miner

Submissions for variant NM_000030.3(AGXT):c.26C>A (p.Thr9Asn) (rs115014558)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000314232 SCV000331578 benign not specified 2015-09-17 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000314232 SCV000538244 benign not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: ExAC frequency
Mendelics RCV000186218 SCV001136272 likely benign Primary hyperoxaluria, type I 2019-05-28 criteria provided, single submitter clinical testing
Clinical Biochemistry Laboratory,Health Services Laboratory RCV000186218 SCV000239541 uncertain significance Primary hyperoxaluria, type I 2014-11-27 no assertion criteria provided in vitro

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