ClinVar Miner

Submissions for variant NC_000008.11:g.(?_117799692)_(117799917_?)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 RCV001033664 SCV001196971 pathogenic Multiple congenital exostosis 2019-07-31 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon 11 of the EXT1 gene. The 5' boundary is likely confined to intron 10. The 3' end of this event is unknown as it extends through the termination codon beyond the assayed region for this gene and may encompass additional genes. While this deletion is not anticipated to result in nonsense mediated decay, it is expected to create a truncated protein product or disrupt mRNA translation. This variant has been observed to be de novo in an individual affected with mutiple osteochondromas (PMID: 21499719). For these reasons, this variant has been classified as Pathogenic.

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