ClinVar Miner

Submissions for variant NM_032415.7(CARD11):c.3086A>G (p.Lys1029Arg)

dbSNP: rs1779213628
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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 RCV002204542 SCV002496021 uncertain significance Severe combined immunodeficiency due to CARD11 deficiency; BENTA disease; Immunodeficiency 11b with atopic dermatitis 2021-07-20 criteria provided, single submitter clinical testing CARD11 NM_032415.5 exon 23 p.Lys1029Arg (c.3086A>G):This variant has not been reported in the literature and is not present in large control databases. Evolutionary conservation for this variant is unclear; computational predictive tools suggest that this variant may not impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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