ClinVar Miner

Submissions for variant NM_000030.3(AGXT):c.613T>C (p.Ser205Pro) (rs121908520)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000420710 SCV000510612 pathogenic not provided 2016-09-08 criteria provided, single submitter clinical testing
OMIM RCV000005994 SCV000026176 pathogenic Primary hyperoxaluria, type I 1991-05-15 no assertion criteria provided literature only
GeneReviews RCV000005994 SCV000172486 pathogenic Primary hyperoxaluria, type I 2014-07-17 no assertion criteria provided literature only
Clinical Biochemistry Laboratory,Health Services Laboratory RCV000005994 SCV000239663 pathogenic Primary hyperoxaluria, type I 2014-11-27 no assertion criteria provided in vitro

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