ClinVar Miner

Submissions for variant NM_000030.3(AGXT):c.302T>C (p.Leu101Pro) (rs180177195)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169219 SCV000220484 likely pathogenic Primary hyperoxaluria, type I 2014-07-07 criteria provided, single submitter literature only
Centogene AG - the Rare Disease Company RCV000169219 SCV001424358 pathogenic Primary hyperoxaluria, type I criteria provided, single submitter clinical testing
Clinical Biochemistry Laboratory,Health Services Laboratory RCV000169219 SCV000239624 pathogenic Primary hyperoxaluria, type I 2014-11-27 no assertion criteria provided in vitro

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