Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001021111 | SCV001182687 | likely benign | Hereditary cancer-predisposing syndrome | 2018-04-03 | 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 | RCV001399408 | SCV001601198 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2023-11-25 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001675981 | SCV001892155 | likely benign | not provided | 2020-11-30 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV003492208 | SCV004239320 | likely benign | Breast and/or ovarian cancer | 2023-06-05 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001021111 | SCV004357758 | likely benign | Hereditary cancer-predisposing syndrome | 2022-12-05 | criteria provided, single submitter | clinical testing |