ClinVar Miner

Submissions for variant NC_000007.14:g.(?_2922614)_(2958526_?)dup

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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 RCV001032326 SCV001195633 uncertain significance Severe combined immunodeficiency due to CARD11 deficiency; BENTA disease 2019-03-26 criteria provided, single submitter clinical testing This variant results in a copy number gain of the genomic region encompassing exons 2-17 of the CARD11 gene. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 17 of the CARD11 gene. As the precise location of this event is unknown, it may be in tandem or it may be located elsewhere in the genome. This variant has not been reported in the literature in individuals with CARD11-related conditions. 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.

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