ClinVar Miner

Submissions for variant NM_182972.3(IRF2BP2):c.124_147del (p.Asn42_Val49del)

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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 RCV003142319 SCV003807842 likely pathogenic Immunodeficiency, common variable, 14 2022-07-05 criteria provided, single submitter clinical testing ACMG classification criteria: PM2 moderated, PM4, PM6 moderated

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