ClinVar Miner

Submissions for variant NC_000023.10:g.(?_32002586)_(32235054_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV004582688 SCV005062278 likely pathogenic Duchenne muscular dystrophy 2020-06-09 criteria provided, single submitter clinical testing This variant results in the deletion of part of exon 44 (c.6417_6439-15955del) of the DMD gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant has been observed in individual(s) with clinical features of DMD-related muscular dystrophy (Invitae). Loss-of-function variants in DMD are known to be pathogenic (PMID: 16770791, 25007885). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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