Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Department of Molecular and Human Genetics, |
RCV001195155 | SCV001334115 | pathogenic | Microcephaly 1, primary, autosomal recessive | 2020-04-16 | no assertion criteria provided | clinical testing |