Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV003238837 | SCV003936514 | uncertain significance | not provided | 2022-12-27 | criteria provided, single submitter | clinical testing | Published functional studies are inconclusive: variant classified as having intermediate function based on a saturation genome editing (SGE) assay measuring cell survival (Findlay et al., 2018); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Also known as 142T>A; This variant is associated with the following publications: (PMID: 24389207, 20104584, 30209399) |
Brotman Baty Institute, |
RCV001076437 | SCV001242194 | not provided | Breast-ovarian cancer, familial, susceptibility to, 1 | no assertion provided | in vitro |