Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001041384 | SCV001204996 | pathogenic | Neurofibromatosis, type 1 | 2019-11-21 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in NF1 are known to be pathogenic (PMID: 10712197, 23913538). This variant has not been reported in the literature in individuals with NF1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Glu1020*) in the NF1 gene. It is expected to result in an absent or disrupted protein product. |
Genetic Services Laboratory, |
RCV001819751 | SCV002067423 | likely pathogenic | not provided | 2019-12-24 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001041384 | SCV002561830 | pathogenic | Neurofibromatosis, type 1 | 2022-03-15 | criteria provided, single submitter | clinical testing |