Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003649166 | SCV001129901 | likely benign | Familial adenomatous polyposis 1 | 2022-11-18 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001524531 | SCV001734419 | likely benign | Hereditary cancer-predisposing syndrome | 2020-06-08 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001524531 | SCV002724863 | likely benign | Hereditary cancer-predisposing syndrome | 2020-10-22 | 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. |