ClinVar Miner

Submissions for variant NM_012203.2(GRHPR):c.889G>A (p.Ala297Thr)

dbSNP: rs200632069
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666135 SCV000790379 uncertain significance Primary hyperoxaluria, type II 2017-03-17 criteria provided, single submitter clinical testing
Rare Kidney Stone Consortium and the Mayo Clinic Hyperoxaluria Center, Mayo Clinic RCV000666135 SCV004171755 likely pathogenic Primary hyperoxaluria, type II 2023-10-27 criteria provided, single submitter clinical testing ACMG:PM1 PM2 PM3 PP3

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