ClinVar Miner

Submissions for variant NM_001098629.3(IRF5):c.1456C>T (p.Arg486Trp)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV003140643 SCV003807618 uncertain significance Systemic lupus erythematosus, susceptibility to, 10 2023-02-12 criteria provided, single submitter clinical testing ACMG classification criteria: PM2 moderated, BP4 supporting

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