Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000216519 | SCV000271352 | pathogenic | Muscular dystrophy | 2015-07-02 | criteria provided, single submitter | clinical testing | The c.(?_6439-24498)_(7873-5329_?)del variant in DMD is a deletion of exons 45-5 3 and is predicted to result in an in-frame deletion. In-frame deletions in DMD are generally associated with BMD (Darras 2014) and deletions in this region hav e been well reported in individuals with BMD (Beggs 1991, Lalic 2005, Oshima 200 9). In summary, this variant meets our criteria to be classified as pathogenic f or dystrophinopathies in an X-linked manner. |