ClinVar Miner

Submissions for variant NM_032415.6(CARD11):c.781C>T (p.Pro261Ser) (rs1562492241)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000768166 SCV000898566 uncertain significance Immunodeficiency 11; B-cell expansion with NFKB and T-cell anergy; IMMUNODEFICIENCY 11B WITH ATOPIC DERMATITIS 2018-08-07 criteria provided, single submitter clinical testing CARD11 NM_032415.5 exon6 p.Pro261Ser (c.781C>T): This variant has not been reported in the literature, and it is not present in large control databases. Evolutionary conservation and computational predictive tools for this variant are unclear. In summary, data on this variant are insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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