ClinVar Miner

Submissions for variant NM_000030.3(AGXT):c.710C>T (p.Pro237Leu)

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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 RCV003445275 SCV004171782 uncertain significance Primary hyperoxaluria, type I 2023-10-27 criteria provided, single submitter curation ACMG:PM2 PP3
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV003445275 SCV005042984 uncertain significance Primary hyperoxaluria, type I 2024-05-06 criteria provided, single submitter clinical testing

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