Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
CHEO Genetics Diagnostic Laboratory, |
RCV000257959 | SCV000324811 | uncertain significance | Breast and/or ovarian cancer | 2015-09-30 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001182322 | SCV001347744 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-04-30 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001770226 | SCV001993141 | uncertain significance | not provided | 2021-04-12 | criteria provided, single submitter | clinical testing | Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Also known as 361A>T; Published functional studies demonstrate no damaging effect: variant classified as functional based on a saturation genome editing (SGE) assay measuring cell survival (Findlay 2018); This variant is associated with the following publications: (PMID: 30209399) |
Brotman Baty Institute, |
RCV001077775 | SCV001243758 | not provided | Breast-ovarian cancer, familial, susceptibility to, 1 | no assertion provided | in vitro |