ClinVar Miner

Submissions for variant NC_000023.10:g.(?_117629935)_(119761021_?)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 RCV003113287 SCV003791373 pathogenic X-linked intellectual disability Cabezas type 2022-07-23 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the CUL4B gene has been identified. Loss-of-function variants in CUL4B are known to be pathogenic (PMID: 17236139, 25385192). 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 CUL4B-related conditions. For these reasons, this variant has been classified as Pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp RCV004579598 SCV005067289 pathogenic Syndromic X-linked intellectual disability 14 2023-04-21 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with UPF3B-related conditions. A gross deletion of the genomic region encompassing the full coding sequence of the UPF3B gene has been identified. Loss-of-function variants in UPF3B are known to be pathogenic (PMID: 17704778, 19238151). The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes.

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