ClinVar Miner

Submissions for variant NM_000030.3(AGXT):c.560C>T (p.Ser187Phe)

gnomAD frequency: 0.00002  dbSNP: rs180177238
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000128801 SCV000797737 likely pathogenic Primary hyperoxaluria, type I 2018-02-08 criteria provided, single submitter clinical testing
GeneReviews RCV000128801 SCV000172455 pathogenic Primary hyperoxaluria, type I 2014-07-17 no assertion criteria provided literature only
Clinical Biochemistry Laboratory,Health Services Laboratory RCV000128801 SCV000239655 pathogenic Primary hyperoxaluria, type I 2014-11-27 no assertion criteria provided in vitro

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