ClinVar Miner

Submissions for variant NM_012203.2(GRHPR):c.109_118delinsCAC (p.Asp37fs)

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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 RCV003445244 SCV004171742 pathogenic Primary hyperoxaluria, type II 2023-10-27 criteria provided, single submitter clinical testing ACMG:PSV1 PM2 PP4

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