Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Génétique des Maladies du Développement, |
RCV001004747 | SCV001164225 | likely pathogenic | Bosch-Boonstra-Schaaf optic atrophy syndrome | 2018-07-19 | criteria provided, single submitter | clinical testing |