ClinVar Miner

Submissions for variant NM_032415.7(CARD11):c.2324C>T (p.Ser775Leu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Precision Medical Center, Wuhan Children's Hospital RCV003482923 SCV004014849 likely pathogenic Immunodeficiency 11b with atopic dermatitis no assertion criteria provided clinical testing Luciferase assay and immunoprecipitation assay suggested that the S775L mutation has a dominant-interfering effect.

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