ClinVar Miner

Submissions for variant NC_000023.10:g.(?_32715977)_(32716130_?)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 RCV003109360 SCV003792624 likely pathogenic Duchenne muscular dystrophy 2021-01-22 criteria provided, single submitter clinical testing 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. A similar deletion of exon 9 has been observed in individual(s) with DMD-related muscular dystrophy (PMID: 26081009, 16770791). This variant is an in-frame deletion of the genomic region encompassing exon(s) 9 of the DMD gene. It preserves the integrity of the reading frame.

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