Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001016648 | SCV001177624 | likely benign | Hereditary cancer-predisposing syndrome | 2018-06-06 | 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. |
Invitae | RCV002235966 | SCV001680657 | likely benign | Familial adenomatous polyposis 1 | 2023-07-25 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV003478580 | SCV004220359 | benign | not provided | 2023-06-13 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001016648 | SCV004361144 | likely benign | Hereditary cancer-predisposing syndrome | 2022-03-21 | criteria provided, single submitter | clinical testing |