Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000703915 | SCV000832842 | pathogenic | Nemaline myopathy 2 | 2021-06-26 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in NEB are known to be pathogenic (PMID: 25205138). This variant has not been reported in the literature in individuals with NEB-related conditions. ClinVar contains an entry for this variant (Variation ID: 580393). This variant is present in population databases (rs201636991, ExAC 0.02%). This sequence change creates a premature translational stop signal (p.Trp1788*) in the NEB gene. It is expected to result in an absent or disrupted protein product. |
Baylor Genetics | RCV003465629 | SCV004200267 | likely pathogenic | Arthrogryposis multiplex congenita 6 | 2023-05-29 | criteria provided, single submitter | clinical testing |