ClinVar Miner

Submissions for variant NM_004006.2(DMD):c.(?_32)_(649_?)del

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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 RCV000616300 SCV000712473 pathogenic Muscular dystrophy 2016-08-19 criteria provided, single submitter clinical testing The c.(?_32)_(649_?)del variant in DMD is a deletion of exons 2-7, which is pred icted to result in an in-frame deletion. In-frame deletions in DMD are generally associated with Becker muscular dystrophy (BMD; Darras 2014). Multiple deletion s in this region have been reported in individuals with BMD (Beggs 1991, Gold 19 92, Nigro 1997, Yuge 1999, Suminaga 2000, Kaspar 2009). In summary, this variant meets our criteria to be classified as pathogenic for dystrophinopathies in an X-linked manner.

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