ClinVar Miner

Submissions for variant NM_000030.3(AGXT):c.27C>A (p.Thr9=)

gnomAD frequency: 0.00003  dbSNP: rs180177188
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000939994 SCV001085850 likely benign not provided 2024-01-25 criteria provided, single submitter clinical testing
Clinical Biochemistry Laboratory, Health Services Laboratory RCV000186219 SCV000239542 uncertain significance Primary hyperoxaluria, type I 2014-11-27 no assertion criteria provided research
Natera, Inc. RCV000186219 SCV001456045 likely benign Primary hyperoxaluria, type I 2020-09-16 no assertion criteria provided clinical testing

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