Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Equipe Genetique des Anomalies du Developpement, |
RCV000256182 | SCV000803820 | likely pathogenic | Congenital myasthenic syndrome 20 | 2016-06-21 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000256182 | SCV000322732 | pathogenic | Congenital myasthenic syndrome 20 | 2016-10-07 | no assertion criteria provided | literature only |