ClinVar Miner

Submissions for variant NM_000038.5(APC):c.-85_*2113del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000232813 SCV000282688 pathogenic Familial adenomatous polyposis 1 2018-11-01 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the APC 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. Similar deletions have been observed in several individuals affected with familial adenomatous polyposis (PMID: 18487285, 19279422, 21643010). ClinVar contains an entry for this variant (Variation ID: 236555). Loss-of-function variants in APC are known to be pathogenic (PMID: 17963004, 20685668). For these reasons, this variant has been classified as Pathogenic.

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