ClinVar Miner

Submissions for variant NC_000007.13:g.(?_2972149)_(2972240_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001947000 SCV002241304 pathogenic Severe combined immunodeficiency due to CARD11 deficiency; BENTA disease 2021-08-15 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 11 of the CARD11 gene. This deletion is out-of-frame, and is expected to create a premature termination codon and result in an absent or disrupted protein product. Loss-of-function variants in CARD11 are known to be pathogenic (PMID: 23374270, 23561803, 26289640). This variant has not been reported in the literature in individuals affected with CARD11-related conditions. For these reasons, this variant has been classified as Pathogenic.

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