Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Groupe Hospitalier Pitie Salpetriere, |
RCV000496197 | SCV000586770 | pathogenic | Developmental and epileptic encephalopathy, 13 | 2017-01-06 | criteria provided, single submitter | clinical testing | Intellectual disability, moderate; epilepsy with early onset < 2 years; microcephaly |