Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Consortium of Investigators of Modifiers of BRCA1/2 |
RCV000258342 | SCV000326139 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2015-10-02 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000460596 | SCV000564058 | pathogenic | Hereditary breast ovarian cancer syndrome | 2016-11-29 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exons 17-18 of the BRCA1 gene. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. Gross deletions in BRCA1 are known to be pathogenic. A similar deletion encompassing exon 17-18 has been reported in the literature in patients and families affected with breast and ovarian cancer (PMID: 12700174, 17333342, 17561994, 18431737). Deletion of exons 17-18 is also known as deletion of exons 18-19 in the literature. For these reasons, this variant has been classified as Pathogenic. |
Department of Pathology and Laboratory Medicine, |
RCV000501600 | SCV000591644 | pathogenic | Hereditary breast ovarian cancer syndrome | 2013-05-29 | criteria provided, single submitter | clinical testing |