ClinVar Miner

Submissions for variant NM_000030.3(AGXT):c.1102G>A (p.Ala368Thr)

dbSNP: rs180177163
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Biochemistry Laboratory, Health Services Laboratory RCV000186355 SCV000239702 pathogenic Primary hyperoxaluria, type I 2014-11-27 no assertion criteria provided in vitro

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