ClinVar Miner

Submissions for variant NM_000030.3(AGXT):c.352C>T (p.Arg118Cys) (rs376844297)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000346525 SCV000338371 uncertain significance not provided 2015-12-22 criteria provided, single submitter clinical testing
Clinical Biochemistry Laboratory,Health Services Laboratory RCV000186301 SCV000239634 pathogenic Primary hyperoxaluria, type I 2014-11-27 no assertion criteria provided in vivo

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