ClinVar Miner

Submissions for variant NM_000030.3(AGXT):c.795C>T (p.Pro265=)

gnomAD frequency: 0.00004  dbSNP: rs760015739
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000895210 SCV001039239 likely benign not provided 2024-01-20 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003910659 SCV004727050 likely benign AGXT-related condition 2023-04-19 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV001276583 SCV001462988 uncertain significance Primary hyperoxaluria, type I 2020-02-13 no assertion criteria provided clinical testing

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