Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Service de Génétique Moléculaire, |
RCV001255842 | SCV001432466 | likely pathogenic | Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability | no assertion criteria provided | clinical testing |