Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratoire de Génétique Moléculaire, |
RCV001281603 | SCV001468928 | pathogenic | not provided | criteria provided, single submitter | clinical testing | ||
NIHR Bioresource Rare Diseases, |
RCV001003589 | SCV001161966 | likely pathogenic | Epileptic encephalopathy | no assertion criteria provided | research |