Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001047709 | SCV001211688 | pathogenic | Neurofibromatosis, type 1 | 2019-01-11 | 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 been observed in an individual affected with neurofibromatosis type 1 (PMID: 10712197). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Leu2280*) in the NF1 gene. It is expected to result in an absent or disrupted protein product. |
Genome Diagnostics Laboratory, |
RCV001047709 | SCV001478998 | pathogenic | Neurofibromatosis, type 1 | 2020-10-26 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001047709 | SCV002560218 | pathogenic | Neurofibromatosis, type 1 | 2022-03-15 | criteria provided, single submitter | clinical testing |