Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Lupski Lab, |
RCV000454297 | SCV000537911 | likely pathogenic | Abnormal brain morphology | criteria provided, single submitter | research | There is one more families with similar phenotype | |
Laboratorio de Genetica e Diagnostico Molecular, |
RCV000516160 | SCV002512487 | likely pathogenic | Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy | 2021-08-17 | criteria provided, single submitter | clinical testing | ACMG classification criteria: PS3 supporting, PS4 supporting, PM2 moderate, PM3 moderate |
OMIM | RCV000516160 | SCV000612154 | pathogenic | Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy | 2019-08-20 | no assertion criteria provided | literature only | |
Zotz- |
RCV000516160 | SCV004171611 | uncertain significance | Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy | 2023-11-24 | no assertion criteria provided | clinical testing |