ClinVar Miner

Submissions for variant NC_000005.10:g.(?_112818966)_(112821991_?)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 RCV000466566 SCV000564013 pathogenic Familial adenomatous polyposis 1 2016-11-21 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exons 10-11 of the APC gene. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. This variant has been reported in the literature in individuals affected with adenomatous polyposis (PMID: 18487285). This variant is also known in the literature as deletion of exons 9-10 by alternate exon numbering. For these reasons, this variant has been classified as Pathogenic.

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