Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000817950 | SCV000958537 | pathogenic | Cohen syndrome | 2018-07-13 | criteria provided, single submitter | clinical testing | This variant is an in-frame deletion of the genomic region encompassing exons 20-29 of the VPS13B gene. It preserves the integrity of the reading frame. This variant has not been reported in the literature in individuals with VPS13B-related disease. Sub-genic deletion of exons 20-21 has been determined to be pathogenic (PMID: PMID: 15141358, 16648375). Therefore, deletions that fully encompass that region are also expected to be pathogenic. For these reasons, this variant has been classified as Pathogenic. |