ClinVar Miner

Submissions for variant NM_138413.4(HOGA1):c.769T>G (p.Cys257Gly) (rs267606764)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000994489 SCV001148059 likely pathogenic not provided 2019-03-01 criteria provided, single submitter clinical testing
OMIM RCV000000051 SCV000020194 pathogenic Primary hyperoxaluria, type III 2010-09-10 no assertion criteria provided literature only
Clinical Biochemistry Laboratory,Health Services Laboratory RCV000000051 SCV000239844 pathogenic Primary hyperoxaluria, type III 2014-11-27 no assertion criteria provided in vitro

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