Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002537743 | SCV002996783 | pathogenic | Microcephaly, normal intelligence and immunodeficiency | 2022-08-18 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Trp2*) in the NBN gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in NBN are known to be pathogenic (PMID: 9590180, 16415040). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 989423). This variant has not been reported in the literature in individuals affected with NBN-related conditions. This variant is not present in population databases (gnomAD no frequency). |
CZECANCA consortium | RCV001270990 | SCV001451802 | pathogenic | Breast and/or ovarian cancer | 2019-06-11 | no assertion criteria provided | clinical testing |