ClinVar Miner

Submissions for variant NM_000030.3(AGXT):c.653C>T (p.Ser218Leu)

gnomAD frequency: 0.00002  dbSNP: rs180177253
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169358 SCV000220729 likely pathogenic Primary hyperoxaluria, type I 2014-09-24 criteria provided, single submitter literature only
Invitae RCV001386996 SCV001587463 pathogenic not provided 2021-09-01 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories,Mayo Clinic RCV001386996 SCV001715800 pathogenic not provided 2019-04-23 criteria provided, single submitter clinical testing PS3, PS4_moderate, PM2, PP1, PP4
Clinical Biochemistry Laboratory,Health Services Laboratory RCV000169358 SCV000239668 pathogenic Primary hyperoxaluria, type I 2014-11-27 no assertion criteria provided in vitro
Natera, Inc. RCV000169358 SCV002076473 pathogenic Primary hyperoxaluria, type I 2021-09-08 no assertion criteria provided clinical testing

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