ClinVar Miner

Submissions for variant NC_000023.11:g.(?_18506933)_(18653564_?)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 RCV000819899 SCV000960584 pathogenic Developmental and epileptic encephalopathy, 2; Angelman syndrome-like 2019-08-05 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the CDKL5 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. Isolated whole-gene deletions of CDKL5 have not been reported in the literature. However, larger copy number events that include this gene have been reported (PMID: 19780792, 23184456, 21770923, 20493745, 23828526). Loss-of-function variants in CDKL5 are known to be pathogenic (PMID: 22872100). For these reasons, this variant has been classified as Pathogenic.

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