ClinVar Miner

Submissions for variant NM_000030.3(AGXT):c.32C>G (p.Pro11Arg) (rs34116584)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000186275 SCV001162942 likely pathogenic Primary hyperoxaluria, type I criteria provided, single submitter clinical testing
Clinical Biochemistry Laboratory,Health Services Laboratory RCV000186275 SCV000239600 pathogenic Primary hyperoxaluria, type I 2014-11-27 no assertion criteria provided in vitro
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City RCV000186275 SCV001469157 pathogenic Primary hyperoxaluria, type I 2020-11-12 no assertion criteria provided clinical testing

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