ClinVar Miner

Submissions for variant NM_000030.3(AGXT):c.1079G>A (p.Arg360Gln)

gnomAD frequency: 0.00001  dbSNP: rs180177161
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000186354 SCV000797751 likely pathogenic Primary hyperoxaluria, type I 2018-02-08 criteria provided, single submitter clinical testing
Invitae RCV001857592 SCV002234351 pathogenic not provided 2021-07-13 criteria provided, single submitter clinical testing
Clinical Biochemistry Laboratory,Health Services Laboratory RCV000186354 SCV000239701 pathogenic Primary hyperoxaluria, type I 2014-11-27 no assertion criteria provided in vitro

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