ClinVar Miner

Submissions for variant NC_000014.8:g.(?_35182071)_(35873850_?)del

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003107717 SCV003791708 uncertain significance Ectodermal dysplasia and immunodeficiency 2 2022-07-19 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the NFKBIA gene has been identified. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in NFKBIA cause disease. The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. This variant has not been reported in the literature in individuals affected with NFKBIA-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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003113213 SCV003791295 uncertain significance not provided 2022-07-19 flagged submission clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the SRP54 gene has been identified. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in SRP54 cause disease. The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. This variant has not been reported in the literature in individuals affected with SRP54-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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