Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000214842 | SCV000276956 | likely benign | Hereditary cancer-predisposing syndrome | 2015-06-30 | 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. |
Color Diagnostics, |
RCV000214842 | SCV000686227 | likely benign | Hereditary cancer-predisposing syndrome | 2016-11-18 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001447886 | SCV001650963 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2024-01-11 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV003491982 | SCV004239602 | likely benign | Breast and/or ovarian cancer | 2023-01-25 | criteria provided, single submitter | clinical testing |