ClinVar Miner

Submissions for variant NM_012203.2(GRHPR):c.540del (p.Leu181fs)

dbSNP: rs180177315
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV000186458 SCV003828725 likely pathogenic Primary hyperoxaluria, type II 2022-06-28 criteria provided, single submitter clinical testing
Clinical Biochemistry Laboratory, Health Services Laboratory RCV000186458 SCV000239815 pathogenic Primary hyperoxaluria, type II 2014-11-27 no assertion criteria provided research

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