ClinVar Miner

Submissions for variant NM_000030.3(AGXT):c.830delinsAA (p.Ala277fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Biochemistry Laboratory, Health Services Laboratory RCV003468717 SCV004217826 pathogenic Primary hyperoxaluria, type I 2023-10-27 criteria provided, single submitter clinical testing ACMG:PVS1 PS3 PM2

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