ClinVar Miner

Submissions for variant NM_032415.7(CARD11):c.1341+15G>A

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002857455 SCV003226235 uncertain significance Severe combined immunodeficiency due to CARD11 deficiency; BENTA disease 2022-10-12 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant has not been reported in the literature in individuals affected with CARD11-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 9 of the CARD11 gene. It does not directly change the encoded amino acid sequence of the CARD11 protein.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003111600 SCV003800357 likely benign not provided 2022-09-20 criteria provided, single submitter clinical testing

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