ClinVar Miner

Submissions for variant NC_000007.13:g.(?_2954851)_(2955026_?)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 RCV004583570 SCV005065954 pathogenic Severe combined immunodeficiency due to CARD11 deficiency; BENTA disease 2023-06-03 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. A similar copy number variant has been observed in individual(s) with combined Immunodeficiency (PMID: 23374270). This variant is a gross deletion of the genomic region encompassing exon(s) 21 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).

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