Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000637871 | SCV000759350 | likely benign | Hereditary breast ovarian cancer syndrome | 2023-12-03 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000637871 | SCV000839213 | uncertain significance | Hereditary breast ovarian cancer syndrome | 2018-07-02 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001190949 | SCV001358617 | likely benign | Hereditary cancer-predisposing syndrome | 2019-06-19 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001190949 | SCV002642007 | likely benign | Hereditary cancer-predisposing syndrome | 2022-01-24 | 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. |
Brotman Baty Institute, |
RCV001077035 | SCV001242898 | not provided | Breast-ovarian cancer, familial, susceptibility to, 1 | no assertion provided | in vitro |