ClinVar Miner

Submissions for variant NM_000030.3(AGXT):c.560_561insGGT (p.Ser187_Leu188insVal)

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Total submissions: 1
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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 RCV003445272 SCV004171779 pathogenic Primary hyperoxaluria, type I 2023-10-27 criteria provided, single submitter clinical testing ACMG:PM2 PM4 PP3 PP4

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