ClinVar Miner

Submissions for variant NM_000030.3(AGXT):c.198C>A (p.Tyr66Ter)

dbSNP: rs121908521
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV001263729 SCV001441822 likely pathogenic Primary hyperoxaluria, type I 2019-12-28 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001263729 SCV002023815 pathogenic Primary hyperoxaluria, type I 2021-11-12 criteria provided, single submitter clinical testing
Clinical Biochemistry Laboratory, Health Services Laboratory RCV001263729 SCV004217783 pathogenic Primary hyperoxaluria, type I 2023-10-27 criteria provided, single submitter curation ACMG:PVS1 PM2 PP5

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