Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV001178038 | SCV001342366 | likely benign | Hereditary cancer-predisposing syndrome | 2019-10-31 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003594101 | SCV004282246 | uncertain significance | Hereditary nonpolyposis colorectal neoplasms | 2023-12-21 | criteria provided, single submitter | clinical testing | This sequence change falls in intron 1 of the MSH2 gene. It does not directly change the encoded amino acid sequence of the MSH2 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 MSH2-related conditions. ClinVar contains an entry for this variant (Variation ID: 919722). Experimental studies and prediction algorithms are not available or were not evaluated, and the effect of this variant on mRNA splicing 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. |