Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001043702 | SCV001207461 | pathogenic | Hereditary breast ovarian cancer syndrome | 2019-02-22 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). This variant has not been reported in the literature in individuals with BRCA2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Leu1072*) in the BRCA2 gene. It is expected to result in an absent or disrupted protein product. |
Revvity Omics, |
RCV001784589 | SCV002016864 | pathogenic | not provided | 2019-03-01 | criteria provided, single submitter | clinical testing |