ClinVar Miner

Submissions for variant NM_032415.6(CARD11):c.1143+10C>G (rs1300600302)

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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 RCV000768165 SCV000898565 uncertain significance Immunodeficiency 11; B-cell expansion with NFKB and T-cell anergy; IMMUNODEFICIENCY 11B WITH ATOPIC DERMATITIS 2018-08-02 criteria provided, single submitter clinical testing CARD11 NM_032415.5 exon 8 c.1143+10C>G: This variant has not been reported in the literature, but it is present in 2/33438 Latino alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/variant/7-2977531-G-C). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. This variant is an intronic variant; splice prediction tools suggest that this variant may not affect splicing. However, further studies are needed to understand its impact. In summary, the data on this variant are insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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