ClinVar Miner

Submissions for variant NC_000023.10:g.(?_32235013)_(33038337_?)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 RCV000814614 SCV000955028 pathogenic Duchenne muscular dystrophy 2018-08-04 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in DMD are known to be pathogenic (PMID: 16770791, 25007885). This variant has been observed in individuals affected with dystrophinopathy (PMID: 23453023, 27206868). This variant results in a copy number gain of the genomic region encompassing exons 2-44 of the DMD gene. While the exact position of this variant cannot be determined from this data, sub-genic copy number gains are generally in tandem (PMID: 25640679) and may result in an absent or disrupted protein product.

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