Total submissions: 2
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 |