Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Génétique des Maladies du Développement, |
RCV001255383 | SCV001431783 | likely pathogenic | Global developmental delay | 2019-11-01 | criteria provided, single submitter | clinical testing | |
OMIM | RCV001250404 | SCV001424763 | pathogenic | Developmental and epileptic encephalopathy, 65 | 2020-11-17 | no assertion criteria provided | literature only |