ClinVar Miner

Submissions for variant NM_004006.2(DMD):c.(?_6439)-24498_(7873_?)-5329del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized 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.

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