ClinVar Miner

Submissions for variant NC_000023.10:g.(?_31219364)_(31497240_?)dup

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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 RCV003113354 SCV003792740 uncertain significance Duchenne muscular dystrophy 2022-08-21 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 58-67 of the DMD gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame. This variant has not been reported in the literature in individuals affected with DMD-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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