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: 4
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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
Breakthrough Genomics, Breakthrough Genomics RCV001689720 SCV005265670 benign not provided criteria provided, single submitter not provided
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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