Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000708350 | SCV000837460 | pathogenic | DiGeorge syndrome | 2018-05-04 | criteria provided, single submitter | clinical testing | A gross deletion of the genomic region encompassing the full coding sequence of the TBX1 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 deletions have been reported in many individuals with congenital heart defects (PMID: 25516202). Loss-of-function variants in TBX1 are known to be pathogenic (PMID: 11239417, 11242049). For these reasons, this variant has been classified as Pathogenic. |