ClinVar Miner

Submissions for variant NC_000023.11:g.(?_32216896)_(32698018_?)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 RCV000630668 SCV000751633 pathogenic Duchenne muscular dystrophy 2017-10-14 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. A different deletion of exons 10-44 within this deleted region has been determined to be pathogenic (PMID: 22090376, 18055393, 27206868, 20485447, 12674656). This suggests that these exons are critical for DMD protein function and that other deletions of this region may also be pathogenic. This variant has been observed to segregate with Duchenne muscular dystrophy in a single family (Invitae). This variant is an in-frame deletion of the genomic region encompassing exons 9-44 of the DMD gene. It preserves the integrity of the reading frame.

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