ClinVar Miner

Submissions for variant NC_000001.10:g.(?_9770494)_(9787124_?)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 RCV001300466 SCV001489607 uncertain significance Immunodeficiency 14 2020-04-14 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the PIK3CD gene has been identified. The boundaries of this event are unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. This variant has not been reported in the literature in individuals with PIK3CD-related conditions. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in PIK3CD cause disease. 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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