Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Lupski Lab, |
RCV000454203 | SCV000537910 | likely pathogenic | Abnormal brain morphology | criteria provided, single submitter | research | There is one more families with similar phenotype | |
OMIM | RCV000516158 | SCV000612153 | pathogenic | Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy | 2019-08-20 | no assertion criteria provided | literature only |