ClinVar Miner

Submissions for variant NM_012203.2(GRHPR):c.344C>A (p.Ala115Glu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Biochemistry Laboratory, Health Services Laboratory RCV003447376 SCV004174324 likely pathogenic Primary hyperoxaluria, type II 2023-10-27 criteria provided, single submitter curation ACMG:PM1 PM2 PP3 PP5
Revvity Omics, Revvity RCV003447376 SCV004235198 uncertain significance Primary hyperoxaluria, type II 2023-04-25 criteria provided, single submitter clinical testing

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