Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV001191319 | SCV001359080 | likely benign | Hereditary cancer-predisposing syndrome | 2017-03-04 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001863037 | SCV002282879 | uncertain significance | Hereditary nonpolyposis colorectal neoplasms | 2023-05-05 | criteria provided, single submitter | clinical testing | 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. ClinVar contains an entry for this variant (Variation ID: 927819). This variant has not been reported in the literature in individuals affected with MSH6-related conditions. This variant is not present in population databases (gnomAD no frequency). This variant occurs in a non-coding region of the MSH6 gene. It does not change the encoded amino acid sequence of the MSH6 protein. |