Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV004782173 | SCV005395472 | pathogenic | von Willebrand disorder | 2024-09-17 | criteria provided, single submitter | clinical testing | Variant summary: The variant involves the deletion of exon 6 in the VWF gene. A presumed nomenclature of c.(532+1_533-1)_(657+1_658-1)del has been designated for the purposes of this classification. This Copy Number Variant (CNV) is expected to alter the reading frame and predicted to result in a truncation or absence of the encoded protein due to nonsense mediated decay (NMD). The variant was absent in 21694 control chromosomes (gnomAD Structual Variants dataset). c.(532+1_533-1)_(657+1_658-1)del has been reported in the literature in individuals affected with Von Willebrand Disease (e.g., Yadegari_2011). These data indicate that the variant is likely to be associated with disease. The following publication was ascertained in the context of this evaluation (PMID: 21410641). ClinVar contains an entry for this variant (Variation ID: 1065236, 627513). Based on the evidence outlined above, the variant was classified as pathogenic. |
| Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, |
RCV001787154 | SCV001572623 | pathogenic | von Willebrand disease type 3 | 2021-04-12 | no assertion criteria provided | clinical testing | CNV Interpretation Scoring Rubric: Copy Number LOSS |