Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV001186597 | SCV001353060 | likely benign | Hereditary cancer-predisposing syndrome | 2019-05-23 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002559940 | SCV003003064 | uncertain significance | Hereditary nonpolyposis colorectal neoplasms | 2023-08-11 | criteria provided, single submitter | clinical testing | This sequence change falls in intron 4 of the PMS2 gene. It does not directly change the encoded amino acid sequence of the PMS2 protein. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with PMS2-related conditions. ClinVar contains an entry for this variant (Variation ID: 924938). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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. |
All of Us Research Program, |
RCV004008615 | SCV004840768 | likely benign | Lynch syndrome | 2023-12-18 | criteria provided, single submitter | clinical testing |