Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000205620 | SCV000260596 | pathogenic | Hereditary breast ovarian cancer syndrome | 2015-09-13 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exons 17-18 of the BRCA2 gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product. Truncating variants in BRCA2 are known to be pathogenic. This particular deletion has been reported in an individual affected with breast cancer (PMID: 16199546). For these reasons, this variant has been classified as Pathogenic. |
Consortium of Investigators of Modifiers of BRCA1/2 |
RCV000258282 | SCV000327736 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 2 | 2015-10-02 | criteria provided, single submitter | clinical testing |