Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Human Genetics, |
RCV000202429 | SCV000245564 | 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. |
Gene |
RCV000394437 | SCV000330284 | pathogenic | not provided | 2025-01-08 | criteria provided, single submitter | clinical testing | Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene where this variant type is part of the mutation spectrum reported in the published literature (PMID: 31175295, 32725632, 35238682, 35712061); Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 37107610, 33057194, 31175295, 32725632, 35238682, 35712061, 30158690, 26386245, 38421079) |
Baylor Genetics | RCV000202429 | SCV000747081 | pathogenic | Congenital muscular hypertrophy-cerebral syndrome | 2018-03-08 | criteria provided, single submitter | clinical testing | |
OMIM | RCV001072124 | SCV001237467 | pathogenic | Developmental and epileptic encephalopathy, 85, with or without midline brain defects | 2015-10-01 | no assertion criteria provided | literature only |