Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV001185162 | SCV001351316 | likely benign | Hereditary cancer-predisposing syndrome | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002560866 | SCV003349252 | likely benign | Familial adenomatous polyposis 2 | 2022-05-04 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001185162 | SCV004055750 | likely benign | Hereditary cancer-predisposing syndrome | 2023-07-05 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: 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. |