Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000648330 | SCV000770146 | uncertain significance | Immunodeficiency, common variable, 4 | 2017-08-17 | criteria provided, single submitter | clinical testing | A gross deletion of the genomic region encompassing the full coding sequence of the TNFRSF13C 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. This gross deletion has not been reported in the literature in individuals with TNFRSF13C-related disease. However, a smaller in-frame deletion (known as del 89-96), which is encompassed within this deletion has been reported in individuals from a single family affected with late onset common variable immunodeficiency (CVID) (PMID: 19666484). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |