Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000165194 | SCV000215906 | likely benign | Hereditary cancer-predisposing syndrome | 2014-08-01 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
| Invitae | RCV000629711 | SCV000750667 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2023-12-30 | criteria provided, single submitter | clinical testing | |
| Color Diagnostics, |
RCV000165194 | SCV001354177 | likely benign | Hereditary cancer-predisposing syndrome | 2023-12-05 | criteria provided, single submitter | clinical testing | |
| All of Us Research Program, |
RCV003995401 | SCV004835087 | uncertain significance | Lynch syndrome | 2023-08-15 | criteria provided, single submitter | clinical testing | This variant causes a C>G nucleotide substitution in exon 6 of the MSH6 gene. Splice site prediction tools suggest that this variant activates a cryptic splice donor site located 24 nucleotide upstream of the reference splice site. To our knowledge, functional studies have not been performed for this variant. This variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has been identified in 10/251186 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance. |