Total submissions: 1
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001032267 | SCV001195574 | uncertain significance | Familial adenomatous polyposis 1 | 2019-02-08 | criteria provided, single submitter | clinical testing | This variant results in a copy number gain of the genomic region encompassing exons 3-16 of the APC gene. The 5' boundary is likely confined to intron 2. The 3' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. As the precise location of this event is unknown, it may be in tandem or it may be located elsewhere in the genome. This duplication has not been reported in the literature in individuals with APC-related conditions. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected exons is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |