Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001216978 | SCV001388803 | pathogenic | Nemaline myopathy 2 | 2019-05-10 | criteria provided, single submitter | clinical testing | Loss-of-function variants in NEB are known to be pathogenic (PMID: 25205138). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with NEB-related conditions. This sequence change creates a premature translational stop signal (p.Asp1129Thrfs*55) in the NEB gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). |
Baylor Genetics | RCV003462736 | SCV004198194 | likely pathogenic | Arthrogryposis multiplex congenita 6 | 2024-02-05 | criteria provided, single submitter | clinical testing |