Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Personalized Medicine, |
RCV000735399 | SCV000854554 | pathogenic | Hypertelorism; Megalencephaly, autosomal dominant; Sudden death; Seizure; Febrile seizure (within the age range of 3 months to 6 years); Gliosis; Frontal bossing; Polymicrogyria; Abnormality of neuronal migration; Death in childhood; Hemimegalencephaly | criteria provided, single submitter | clinical testing | ||
Center for Personalized Medicine, |
RCV003156129 | SCV003845266 | pathogenic | See cases | 2022-12-21 | criteria provided, single submitter | clinical testing |