Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001019103 | SCV001180419 | likely benign | Hereditary cancer-predisposing syndrome | 2018-06-27 | 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, |
RCV001019103 | SCV001734511 | likely benign | Hereditary cancer-predisposing syndrome | 2020-07-27 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002068972 | SCV002392420 | likely benign | Hereditary breast ovarian cancer syndrome | 2022-09-10 | criteria provided, single submitter | clinical testing |