Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Neuroscience and Cell Biology, |
RCV000408933 | SCV000484526 | uncertain significance | Epilepsy; Encephalopathy; Dementia; Hypotonia; Developmental delay; Calcification of extrapyramidal basal ganglia | 2016-11-21 | no assertion criteria provided | clinical testing | |
Center for Neuroscience and Cell Biology, |
RCV000408948 | SCV000484527 | uncertain significance | Hearing impairment; Microcephaly; Developmental delay; Congenital cardiomyopathy | 2016-11-21 | no assertion criteria provided | clinical testing | |
Center for Neuroscience and Cell Biology, |
RCV000408924 | SCV000484528 | uncertain significance | Hearing impairment; Macrocephaly; Developmental delay | 2016-11-21 | no assertion criteria provided | clinical testing | |
Center for Neuroscience and Cell Biology, |
RCV000408939 | SCV000484529 | uncertain significance | Leigh syndrome | 2016-11-21 | no assertion criteria provided | clinical testing |