ClinVar Miner

Submissions for variant NM_138413.4(HOGA1):c.713del (p.Gly238fs)

dbSNP: rs760930050
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665202 SCV000789277 uncertain significance Primary hyperoxaluria type 3 2017-01-19 criteria provided, single submitter clinical testing
Rare Kidney Stone Consortium and the Mayo Clinic Hyperoxaluria Center, Mayo Clinic RCV000665202 SCV004171737 pathogenic Primary hyperoxaluria type 3 2023-10-27 criteria provided, single submitter clinical testing ACMG:PVS1 PM2 PM3

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