Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000809313 | SCV000949460 | uncertain significance | Duchenne muscular dystrophy | 2020-02-14 | criteria provided, single submitter | clinical testing | This variant is an in-frame deletion of the genomic region encompassing exons 45-60 of the DMD gene. It preserves the integrity of the reading frame. This variant has been observed in an individual affected with Duchenne muscular dystrophy (PMID:21515508). 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. |