Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000556096 | SCV000647074 | pathogenic | Axenfeld-Rieger syndrome type 3 | 2019-08-16 | criteria provided, single submitter | clinical testing | A gross deletion of the genomic region encompassing the full coding sequence of the FOXC1 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. Deletion of FOXC1 has been reported in several individuals affected with anterior segment dysgenesis and Axenfeld-Rieger syndrome (PMID: 20881294, 22382802). Loss-of-function variants in FOXC1 are known to be pathogenic (PMID: 16936096). For these reasons, this variant has been classified as Pathogenic. |