ClinVar Miner

Submissions for variant NM_000030.3(AGXT):c.836T>C (p.Ile279Thr) (rs140992177)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000180093 SCV000232462 benign not specified 2015-04-15 criteria provided, single submitter clinical testing
Invitae RCV000966394 SCV001113712 likely benign not provided 2019-03-04 criteria provided, single submitter clinical testing
Clinical Biochemistry Laboratory,Health Services Laboratory RCV000186256 SCV000239580 uncertain significance Primary hyperoxaluria, type I 2014-11-27 no assertion criteria provided in vitro

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