Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000636207 | SCV000757639 | likely benign | Familial cancer of breast; Fanconi anemia complementation group J | 2023-11-02 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000990038 | SCV001140802 | likely benign | Familial cancer of breast | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001185471 | SCV001351675 | likely benign | Hereditary cancer-predisposing syndrome | 2020-05-11 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001584468 | SCV001811404 | uncertain significance | not provided | 2021-04-07 | criteria provided, single submitter | clinical testing | Not observed in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge; In-silico analysis, which includes splice predictors and evolutionary conservation, is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV004526727 | SCV005039188 | uncertain significance | not specified | 2024-03-23 | criteria provided, single submitter | clinical testing |