Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001071089 | SCV001236375 | pathogenic | Neurofibromatosis, type 2 | 2019-02-20 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in NF2 are known to be pathogenic (PMID: 9643284, 16983642). This variant has been observed in several individuals affected with neurofibromatosis type 2 (PMID: 12566519, 24815379, Invitae). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln65*) in the NF2 gene. It is expected to result in an absent or disrupted protein product. |
Genetics and Molecular Pathology, |
RCV001071089 | SCV002761928 | pathogenic | Neurofibromatosis, type 2 | 2022-02-03 | criteria provided, single submitter | clinical testing |