ClinVar Miner

Submissions for variant NM_138413.4(HOGA1):c.469-31C>T

gnomAD frequency: 0.09102  dbSNP: rs75929214
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001610503 SCV001834374 benign not provided 2019-12-08 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001610503 SCV005318352 benign not provided criteria provided, single submitter not provided
Clinical Biochemistry Laboratory, Health Services Laboratory RCV000186466 SCV000239824 uncertain significance Primary hyperoxaluria type 3 2014-11-27 no assertion criteria provided research

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