Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV001804483 | SCV002052895 | likely benign | Hereditary cancer-predisposing syndrome | 2021-03-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001869513 | SCV002190614 | uncertain significance | Hereditary nonpolyposis colorectal neoplasms | 2022-12-06 | criteria provided, single submitter | clinical testing | Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant 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. ClinVar contains an entry for this variant (Variation ID: 1331967). This variant has not been reported in the literature in individuals affected with MSH2-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. 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, |
RCV004009091 | SCV004817304 | likely benign | Lynch syndrome | 2023-03-07 | criteria provided, single submitter | clinical testing |