Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000165102 | SCV000215811 | likely benign | Hereditary cancer-predisposing syndrome | 2021-10-29 | 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. |
| Gene |
RCV000235270 | SCV000293699 | likely benign | not provided | 2020-02-18 | criteria provided, single submitter | clinical testing | Not observed in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge |
| Labcorp Genetics |
RCV001850310 | SCV002298077 | likely benign | Familial adenomatous polyposis 2 | 2024-01-30 | criteria provided, single submitter | clinical testing | |
| All of Us Research Program, |
RCV001850310 | SCV004825615 | uncertain significance | Familial adenomatous polyposis 2 | 2024-08-13 | criteria provided, single submitter | clinical testing | This variant causes a G to A nucleotide substitution at the +3 position of intron 5 of the MUTYH gene. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with MUTYH-related disorders in the literature. This variant has been identified in 1/246256 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. |