ClinVar Miner

Submissions for variant NM_000030.3(AGXT):c.346G>T (p.Gly116Trp)

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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 RCV003468688 SCV004217793 pathogenic Primary hyperoxaluria, type I 2023-10-27 criteria provided, single submitter curation Liver AGT activity <5%. ACMG:PS3 PS5 PM2 PM3 PP3 PP5

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