ClinVar Miner

Submissions for variant NM_138413.4(HOGA1):c.533T>C (p.Leu178Pro)

dbSNP: rs796052090
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Rare Kidney Stone Consortium and the Mayo Clinic Hyperoxaluria Center, Mayo Clinic RCV000186489 SCV004171792 likely pathogenic Primary hyperoxaluria type 3 2023-10-27 criteria provided, single submitter clinical testing ACMG:PM2 PM3 PP3 PP4
Clinical Biochemistry Laboratory, Health Services Laboratory RCV000186489 SCV000239851 pathogenic Primary hyperoxaluria type 3 2014-11-27 no assertion criteria provided research prediction

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