Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Human Genetics, |
RCV000202430 | SCV000245565 | pathogenic | Congenital muscular hypertrophy-cerebral syndrome | 2015-09-08 | criteria provided, single submitter | clinical testing | Developmental delay and seizures, with either mild or absent classic CdLS facial features. |
OMIM | RCV001072125 | SCV001237468 | pathogenic | Developmental and epileptic encephalopathy, 85, with or without midline brain defects | 2015-10-01 | no assertion criteria provided | literature only |