ClinVar Miner

Submissions for variant NM_138413.4(HOGA1):c.209G>C (p.Arg70Pro) (rs267606763)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000000050 SCV000020193 pathogenic Primary hyperoxaluria, type III 2010-09-10 no assertion criteria provided literature only
Clinical Biochemistry Laboratory,Health Services Laboratory RCV000000050 SCV000239832 pathogenic Primary hyperoxaluria, type III 2014-11-27 no assertion criteria provided in vitro

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