Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000436224 | SCV000528387 | likely benign | not provided | 2018-05-03 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000581106 | SCV000684637 | likely benign | Hereditary cancer-predisposing syndrome | 2015-08-04 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000929602 | SCV001075236 | likely benign | Familial cancer of breast | 2024-01-21 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000581106 | SCV002630961 | likely benign | Hereditary cancer-predisposing syndrome | 2020-06-26 | 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. |