Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV000583705 | SCV000689942 | likely benign | Hereditary cancer-predisposing syndrome | 2016-06-06 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003767309 | SCV004685064 | uncertain significance | Hereditary nonpolyposis colorectal neoplasms | 2023-06-14 | 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: 491739). This variant has not been reported in the literature in individuals affected with MSH2-related conditions. This variant is not present in population databases (gnomAD no frequency). This variant occurs in a non-coding region of the MSH2 gene. It does not change the encoded amino acid sequence of the MSH2 protein. |
All of Us Research Program, |
RCV004002325 | SCV004824490 | likely benign | Lynch syndrome | 2023-06-26 | criteria provided, single submitter | clinical testing |