Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000469899 | SCV000550557 | likely benign | Familial cancer of breast | 2022-10-19 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000581834 | SCV000689663 | likely benign | Hereditary cancer-predisposing syndrome | 2017-07-21 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000997889 | SCV001153644 | uncertain significance | not provided | 2018-12-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000581834 | SCV003892673 | likely benign | Hereditary cancer-predisposing syndrome | 2023-02-02 | 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. |