ClinVar Miner

Submissions for variant NM_000030.3(AGXT):c.682_683delAA (p.Lys228fs)

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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 RCV003468711 SCV004217819 pathogenic Primary hyperoxaluria, type I 2023-10-27 criteria provided, single submitter curation ACMG:PVS1 PM2 PM3

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