Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Lupski Lab, |
RCV000416448 | SCV000494199 | pathogenic | Cardiomyopathy | no assertion criteria provided | research | This variant was identified in individual with developmental delay, intellectual disability, polymicrogyria, cardiomyopathy, and nystagmus. Dual molecular diagnoses involving POLR1C and SCN1B were identified. |