ClinVar Miner

Submissions for variant NM_000030.3(AGXT):c.352C>T (p.Arg118Cys)

gnomAD frequency: 0.00006  dbSNP: rs376844297
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000346525 SCV000338371 uncertain significance not provided 2015-12-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000186301 SCV002790733 uncertain significance Primary hyperoxaluria, type I 2022-01-14 criteria provided, single submitter clinical testing
Rare Kidney Stone Consortium and the Mayo Clinic Hyperoxaluria Center, Mayo Clinic RCV000186301 SCV004171772 pathogenic Primary hyperoxaluria, type I 2023-10-27 criteria provided, single submitter clinical testing ACMG:PS3 PM2PM5 PP3 PP4
Clinical Biochemistry Laboratory, Health Services Laboratory RCV000186301 SCV000239634 pathogenic Primary hyperoxaluria, type I 2014-11-27 no assertion criteria provided in vivo

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