ClinVar Miner

Submissions for variant NM_000074.3(CD40LG):c.687T>A (p.Phe229Leu)

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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 RCV003140603 SCV003807525 likely pathogenic Hyper-IgM syndrome type 1 2022-10-28 criteria provided, single submitter clinical testing ACMG classification criteria: PS1 strong, PS4 supporting, PM2 moderated, PP3 supporting

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