ClinVar Miner

Submissions for variant NM_000030.2(AGXT):c.1049G>A (p.Gly350Asp) (rs180177156)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Biochemistry Laboratory,Health Services Laboratory RCV000169365 SCV000239699 pathogenic Primary hyperoxaluria, type I 2014-11-27 no assertion criteria provided in vitro
Counsyl RCV000169365 SCV000220737 likely pathogenic Primary hyperoxaluria, type I 2014-09-25 criteria provided, single submitter literature only

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