Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000145545 | SCV000192638 | pathogenic | Developmental and epileptic encephalopathy, 2 | 2014-05-06 | criteria provided, single submitter | clinical testing | |
Centre for Mendelian Genomics, |
RCV000626839 | SCV000747542 | pathogenic | Global developmental delay; Seizure; Stereotypic movement disorder; Delayed speech and language development; Generalized hypotonia; Bruxism; Stereotypical hand wringing; Stereotypical body rocking | 2017-01-01 | criteria provided, single submitter | clinical testing |