ClinVar Miner

Submissions for variant NM_000030.3(AGXT):c.489G>A (p.Leu163=) (rs147601535)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000251696 SCV000301571 likely benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000357381 SCV000429362 uncertain significance Primary hyperoxaluria 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000974765 SCV001122623 likely benign not provided 2020-12-01 criteria provided, single submitter clinical testing
Clinical Biochemistry Laboratory,Health Services Laboratory RCV000186244 SCV000239568 uncertain significance Primary hyperoxaluria, type I 2014-11-27 no assertion criteria provided research
Natera, Inc. RCV000186244 SCV001462985 likely benign Primary hyperoxaluria, type I 2020-05-02 no assertion criteria provided clinical testing

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