ClinVar Miner

Submissions for variant NC_000009.12:g.(?_446350)_(464239_?)dup

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001032448 SCV001195755 uncertain significance Combined immunodeficiency due to DOCK8 deficiency 2019-10-02 criteria provided, single submitter clinical testing This variant results in a copy number gain of the genomic region encompassing exons 44-48 of the DOCK8 gene. The 5' boundary is likely confined to intron 43. The 3' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. 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 DOCK8-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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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