ClinVar Miner

Submissions for variant NM_000030.2(AGXT):c.473C>T (p.Ser158Leu) (rs180177225)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Biochemistry Laboratory,Health Services Laboratory RCV000186309 SCV000239644 pathogenic Primary hyperoxaluria, type I 2014-11-27 no assertion criteria provided in vitro
Counsyl RCV000186309 SCV000485635 likely pathogenic Primary hyperoxaluria, type I 2016-01-20 criteria provided, single submitter clinical testing
GenePathDx,Causeway Health Care Private Ltd RCV000186309 SCV000616342 likely pathogenic Primary hyperoxaluria, type I 2017-07-07 criteria provided, single submitter clinical testing

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