ClinVar Miner

Submissions for variant NM_000030.3(AGXT):c.774G>T (p.Arg258Ser)

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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 RCV003445277 SCV004171784 uncertain significance Primary hyperoxaluria, type I 2023-10-27 criteria provided, single submitter clinical testing ACMG: PM2 PP3 PP4

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