ClinVar Miner

Submissions for variant NM_000030.3(AGXT):c.423+45T>G

gnomAD frequency: 0.00232  dbSNP: rs117357855
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001636713 SCV001852260 benign not provided 2019-06-18 criteria provided, single submitter clinical testing
Clinical Biochemistry Laboratory, Health Services Laboratory RCV000186241 SCV000239565 uncertain significance Primary hyperoxaluria, type I 2014-11-27 no assertion criteria provided research

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