Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000813984 | SCV000954371 | pathogenic | Telangiectasia, hereditary hemorrhagic, type 2 | 2021-08-04 | criteria provided, single submitter | clinical testing | A gross deletion of the genomic region encompassing the full coding sequence of the ACVRL1 gene has been identified. Loss-of-function variants in ACVRL1 are known to be pathogenic (PMID: 15879500). The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. A similar copy number variant has been observed in individuals with hereditary hemorrhagic telangiectasia (PMID: 18312453; Invitae). It has also been observed to segregate with disease in related individuals. For these reasons, this variant has been classified as Pathogenic. |