Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV000583553 | SCV000687157 | likely benign | Hereditary cancer-predisposing syndrome | 2016-08-26 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003538383 | SCV001697233 | likely benign | Familial adenomatous polyposis 1 | 2023-11-27 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000583553 | SCV002531459 | likely benign | Hereditary cancer-predisposing syndrome | 2021-05-01 | criteria provided, single submitter | curation | |
Ambry Genetics | RCV000583553 | SCV002678085 | likely benign | Hereditary cancer-predisposing syndrome | 2020-03-16 | 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. |