ClinVar Miner

Submissions for variant NM_000030.3(AGXT):c.126dup (p.Leu43fs)

dbSNP: rs180177171
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669926 SCV000794726 likely pathogenic Primary hyperoxaluria, type I 2017-10-16 criteria provided, single submitter clinical testing
Clinical Biochemistry Laboratory, Health Services Laboratory RCV000669926 SCV004217829 pathogenic Primary hyperoxaluria, type I 2023-10-27 criteria provided, single submitter curation ACMG:PVS1 PM2 PM3 PP4

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