Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000538900 | SCV000651840 | pathogenic | BAP1-related tumor predisposition syndrome | 2019-10-21 | criteria provided, single submitter | clinical testing | A gross deletion of the genomic region encompassing the full coding sequence of the BAP1 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. Deletions of the entire BAP1 gene have not been reported in the literature in individuals with BAP1-related disease. Loss-of-function variants in BAP1 are known to be pathogenic (PMID: 21874000, 23684012). For these reasons, this variant has been classified as Pathogenic. |