ClinVar Miner

Submissions for variant NC_000021.8:g.(?_38792657)_(38884854_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000708541 SCV000837651 pathogenic DYRK1A-related intellectual disability syndrome 2021-08-12 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the DYRK1A gene has been identified. Loss-of-function variants in DYRK1A are known to be pathogenic (PMID: 25944381). The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. A similar copy number variant has been observed in individual(s) with clinical features of DYRK1A-related conditions (PMID: 21204217, 21294719). For these reasons, this variant has been classified as Pathogenic.

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