Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001033831 | SCV001197138 | uncertain significance | Dyskeratosis congenita | 2019-10-19 | criteria provided, single submitter | clinical testing | A gross deletion of the genomic region encompassing the full coding sequence of the NHP2 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 variant has not been reported in the literature in individuals with NHP2-related conditions. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in NHP2 cause disease. 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. |