ClinVar Miner

Submissions for variant NM_138413.4(HOGA1):c.839C>T (p.Thr280Ile) (rs756489804)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Biochemistry Laboratory,Health Services Laboratory RCV000186484 SCV000239845 pathogenic Primary hyperoxaluria, type III 2014-11-27 no assertion criteria provided in vitro

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