ClinVar Miner

Submissions for variant NM_000030.3(AGXT):c.165+40A>C

gnomAD frequency: 0.00038  dbSNP: rs57017537
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000186230 SCV000790214 benign Primary hyperoxaluria, type I 2017-03-23 criteria provided, single submitter clinical testing
GeneDx RCV001576106 SCV001803227 likely benign not provided 2019-08-15 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001576106 SCV005261954 likely benign not provided criteria provided, single submitter not provided
Clinical Biochemistry Laboratory, Health Services Laboratory RCV000186230 SCV000239554 uncertain significance Primary hyperoxaluria, type I 2014-11-27 no assertion criteria provided research

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