ClinVar Miner

Submissions for variant NM_012203.2(GRHPR):c.478G>A (p.Gly160Arg)

gnomAD frequency: 0.00001  dbSNP: rs180177312
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000186441 SCV004191700 likely pathogenic Primary hyperoxaluria, type II 2023-10-08 criteria provided, single submitter clinical testing
Clinical Biochemistry Laboratory, Health Services Laboratory RCV000186441 SCV000239795 pathogenic Primary hyperoxaluria, type II 2014-11-27 no assertion criteria provided research

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