ClinVar Miner

Submissions for variant NM_012203.2(GRHPR):c.494-68A>G

gnomAD frequency: 0.86126  dbSNP: rs309459
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV000186429 SCV001762616 benign Primary hyperoxaluria, type II 2021-07-10 criteria provided, single submitter clinical testing
GeneDx RCV001689720 SCV001911708 benign not provided 2018-11-12 criteria provided, single submitter clinical testing
Clinical Biochemistry Laboratory, Health Services Laboratory RCV000186429 SCV000239780 uncertain significance Primary hyperoxaluria, type II 2014-11-27 no assertion criteria provided research

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