ClinVar Miner

Submissions for variant NM_000030.3(AGXT):c.698G>A (p.Arg233His)

gnomAD frequency: 0.00006  dbSNP: rs121908527
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000006002 SCV000486360 likely pathogenic Primary hyperoxaluria, type I 2016-05-24 criteria provided, single submitter clinical testing
Invitae RCV001385647 SCV001585584 pathogenic not provided 2021-08-31 criteria provided, single submitter clinical testing
OMIM RCV000006002 SCV000026184 pathogenic Primary hyperoxaluria, type I 1997-06-01 no assertion criteria provided literature only
Clinical Biochemistry Laboratory,Health Services Laboratory RCV000006002 SCV000239671 pathogenic Primary hyperoxaluria, type I 2014-11-27 no assertion criteria provided in vitro

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