ClinVar Miner

Submissions for variant NM_012203.2(GRHPR):c.203T>C (p.Leu68Pro)

gnomAD frequency: 0.00001  dbSNP: rs180177305
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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 RCV000186439 SCV000239791 pathogenic Primary hyperoxaluria, type II 2014-11-27 no assertion criteria provided research

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