Total submissions: 4
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 | |
Labcorp Genetics |
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 | |
Ambry Genetics | RCV000583705 | SCV005131906 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-06-14 | criteria provided, single submitter | clinical testing | The c.-5T>G variant is located in the 5' untranslated region (5’ UTR) of the MSH2 gene. This variant results from a T to G substitution 5 bases upstream from the first translated codon. This nucleotide position is not well conserved in available vertebrate species. Based on the available evidence, the clinical significance of this variant remains unclear. |