Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000796125 | SCV000935622 | pathogenic | Birt-Hogg-Dube syndrome | 2018-12-26 | criteria provided, single submitter | clinical testing | A gross deletion of the genomic region encompassing the full coding sequence of the FLCN 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. Whole gene deletion of FLCN has not been reported in the literature in individuals with FLCN-related conditions. Loss-of-function variants in FLCN are known to be pathogenic (PMID: 15852235). For these reasons, this variant has been classified as Pathogenic. |