Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Equipe Genetique des Anomalies du Developpement, |
RCV000824861 | SCV000965763 | likely pathogenic | Bosch-Boonstra-Schaaf optic atrophy syndrome | 2016-01-01 | criteria provided, single submitter | clinical testing |