ClinVar Miner

Submissions for variant NM_000030.3(AGXT):c.777-2A>G

dbSNP: rs796052068
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
AiLife Diagnostics, AiLife Diagnostics RCV002223813 SCV002502845 likely pathogenic not provided 2022-01-10 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000186374 SCV005651634 likely pathogenic Primary hyperoxaluria, type I 2024-05-30 criteria provided, single submitter clinical testing
Clinical Biochemistry Laboratory, Health Services Laboratory RCV000186374 SCV000239722 pathogenic Primary hyperoxaluria, type I 2014-11-27 no assertion criteria provided research

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