ClinVar Miner

Submissions for variant NM_000030.3(AGXT):c.473C>T (p.Ser158Leu)

dbSNP: rs180177225
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000186309 SCV000485635 likely pathogenic Primary hyperoxaluria, type I 2016-01-20 criteria provided, single submitter clinical testing
GenePathDx, GenePath diagnostics RCV000186309 SCV000616342 likely pathogenic Primary hyperoxaluria, type I 2017-07-07 criteria provided, single submitter clinical testing
Invitae RCV001233993 SCV001406618 pathogenic not provided 2021-09-01 criteria provided, single submitter clinical testing
Clinical Biochemistry Laboratory,Health Services Laboratory RCV000186309 SCV000239644 pathogenic Primary hyperoxaluria, type I 2014-11-27 no assertion criteria provided in vitro
Yale Center for Mendelian Genomics,Yale University RCV000186309 SCV002106578 pathogenic Primary hyperoxaluria, type I 2019-01-17 no assertion criteria provided literature only

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