Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001387097 | SCV001587604 | pathogenic | Familial cancer of breast | 2020-10-06 | criteria provided, single submitter | clinical testing | A gross deletion of the genomic region encompassing the full coding sequence of the BARD1 gene has been identified. The boundaries of this event are unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. A similar deletion has been observed in an individual affected with breast cancer (PMID: 20842729). Loss-of-function variants in BARD1 are known to be pathogenic (PMID: 20077502, 21344236). For these reasons, this variant has been classified as Pathogenic. |