Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001234048 | SCV001406674 | pathogenic | Duchenne muscular dystrophy | 2019-09-29 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in DMD are known to be pathogenic (PMID: 16770791, 25007885). This variant has not been reported in the literature in individuals with DMD-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Cys433Asnfs*5) in the DMD gene. It is expected to result in an absent or disrupted protein product. |
Revvity Omics, |
RCV003142198 | SCV003819999 | pathogenic | not provided | 2022-09-19 | criteria provided, single submitter | clinical testing |