ClinVar Miner

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

gnomAD frequency: 0.00019  dbSNP: rs147601535
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000251696 SCV000301571 likely benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000357381 SCV000429362 uncertain significance Primary hyperoxaluria 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000974765 SCV001122623 likely benign not provided 2024-01-21 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000974765 SCV004149693 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing AGXT: BP4, BP7
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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