ClinVar Miner

Submissions for variant NM_000030.3(AGXT):c.547G>A (p.Asp183Asn)

dbSNP: rs180177236
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV000186317 SCV002808730 likely pathogenic Primary hyperoxaluria, type I 2022-04-21 criteria provided, single submitter clinical testing
Clinical Biochemistry Laboratory, Health Services Laboratory RCV000186317 SCV000239654 pathogenic Primary hyperoxaluria, type I 2014-11-27 no assertion criteria provided in vitro

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