Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Génétique des Maladies du Développement, |
RCV000760202 | SCV000890032 | likely pathogenic | Kabuki syndrome 2 | 2017-11-24 | criteria provided, single submitter | clinical testing |