ClinVar Miner

Submissions for variant NC_000005.10:g.(?_112801269)_(112844136_?)del

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001032023 SCV001195330 pathogenic Familial adenomatous polyposis 1 2019-08-14 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. This deletion has been confirmed by an array CGH method to be a large chromosomal deletion on the long arm of chromosome 5 (approximately Chr5:g.88,000,000-158,000,000) that includes the entire APC and entire RAD50 locus. Gross deletions in APC are known to be pathogenic. Similar deletions of the entire coding region of APC have been reported as pathogenic in the literature (PMID: 19279422, 20223039, 24763289). For these reasons, this variant has been classified as Pathogenic.
Invitae RCV001873433 SCV002240252 pathogenic Familial adenomatous polyposis 1 2021-09-09 criteria provided, single submitter clinical testing

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