Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000614367 | SCV000731388 | uncertain significance | not specified | 2017-02-25 | criteria provided, single submitter | clinical testing | The p.Ile1516Val variant in APC has not been previously reported in individuals with FAP or other APC-associated cancers and was absent from large population st udies. Computational prediction tools and conservation analysis do not provide s trong support for or against an impact to the protein. In summary, the clinical significance of the p.Ile1516Val variant is uncertain. |