ClinVar Miner

Submissions for variant NM_012203.2(GRHPR):c.740A>G (p.Asp247Gly)

gnomAD frequency: 0.00001  dbSNP: rs180177318
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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 RCV000186433 SCV000239785 likely benign Primary hyperoxaluria, type II 2023-10-27 criteria provided, single submitter clinical testing ACMG: PM1 PM2 BP4 BP5

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