Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Génétique des Maladies du Développement, |
RCV000760270 | SCV000890108 | pathogenic | CHARGE association; Hypogonadotropic hypogonadism 5 with or without anosmia | 2018-03-02 | criteria provided, single submitter | clinical testing |