ClinVar Miner

Submissions for variant NM_012203.2(GRHPR):c.866-2A>G

gnomAD frequency: 0.00002  dbSNP: rs200316691
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668309 SCV000792887 uncertain significance Primary hyperoxaluria, type II 2017-07-31 criteria provided, single submitter clinical testing
Clinical Biochemistry Laboratory, Health Services Laboratory RCV000668309 SCV004174331 likely pathogenic Primary hyperoxaluria, type II 2023-10-27 criteria provided, single submitter curation ACMG: PVS1PM2

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