ClinVar Miner

Submissions for variant NM_130838.1(UBE3A):c.-44_*1888del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000229848 SCV000291313 pathogenic Angelman syndrome 2016-09-11 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the UBE3A 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. Gross deletions of the genomic region encompassing the UBE3A gene been reported in individuals affected with Angelman syndrome and are known to be pathogenic (PMID: 12210318, 25099823). For these reasons, this variant has been classified as Pathogenic.

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