ClinVar Miner

Submissions for variant NM_000030.3(AGXT):c.423G>C (p.Glu141Asp)

dbSNP: rs180177217
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668762 SCV000793414 uncertain significance Primary hyperoxaluria, type I 2017-08-16 criteria provided, single submitter clinical testing
Clinical Biochemistry Laboratory, Health Services Laboratory RCV000668762 SCV004217796 likely pathogenic Primary hyperoxaluria, type I 2023-10-27 criteria provided, single submitter curation Same amino acid affected as c.423G>T. ACMG: PS1 PM2 PP3 PP5

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