Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Undiagnosed Diseases Network, |
RCV000735215 | SCV000863423 | likely pathogenic | Severe intellectual disability-progressive spastic diplegia syndrome | 2018-07-17 | criteria provided, single submitter | clinical testing | We feel that this variant fully explains the phenotype observed in our patient. |