ClinVar Miner

Submissions for variant NM_000061.3(BTK):c.1685G>A (p.Arg562Gln)

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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 RCV003140461 SCV003807181 likely pathogenic X-linked agammaglobulinemia 2022-03-30 criteria provided, single submitter clinical testing ACMG classification criteria: PM2 moderated, PM5 moderated, PP2 supporting, PP3 supporting

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