Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000471493 | SCV000564071 | uncertain significance | Microcephaly, normal intelligence and immunodeficiency | 2016-09-29 | criteria provided, single submitter | clinical testing | This variant is a gross duplication of the genomic region encompassing exons 9-16 of the NBN gene. The 5' boundary is likely confined to intron 8. The 3' end of this event is unknown as it 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 an NBN-related disease. In summary, the exact genomic location of this variant is unknown and the impact of this duplication on NBN protein function has not been established. Therefore, it has been classified as a Variant of Uncertain Significance. |