ClinVar Miner

Submissions for variant NM_012203.2(GRHPR):c.288-1G>C

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Biochemistry Laboratory, Health Services Laboratory RCV003447389 SCV004174342 likely pathogenic Primary hyperoxaluria, type II 2023-10-27 criteria provided, single submitter curation ACMG: PVS1 PM2

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