Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Biochemical Molecular Genetic Laboratory, |
RCV001283810 | SCV001469207 | likely pathogenic | Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability | 2020-09-10 | no assertion criteria provided | clinical testing |