Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Foundation for Research in Genetics and Endocrinology, |
RCV000495858 | SCV000583508 | likely pathogenic | Duchenne muscular dystrophy | 2017-04-17 | no assertion criteria provided | clinical testing | The observed variant is not reported in 1000 genome and ExAC databases. The in silico prediction of the variant is damaging by MutationTaster2. |