Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000431287 | SCV000531532 | likely benign | not specified | 2016-09-06 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
| Labcorp Genetics |
RCV004564038 | SCV000647535 | likely benign | Familial adenomatous polyposis 1 | 2024-05-01 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV003168684 | SCV003866281 | likely benign | Hereditary cancer-predisposing syndrome | 2023-01-26 | 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. |
| All of Us Research Program, |
RCV004000503 | SCV004837150 | likely benign | Classic or attenuated familial adenomatous polyposis | 2024-02-05 | criteria provided, single submitter | clinical testing | |
| Myriad Genetics, |
RCV004564038 | SCV004931223 | benign | Familial adenomatous polyposis 1 | 2024-03-27 | criteria provided, single submitter | clinical testing | This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing. |