Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Undiagnosed Diseases Program Translational Research Laboratory, |
RCV000855659 | SCV000920633 | likely pathogenic | Congenital cerebellar hypoplasia; Epilepsy; Congenital ocular coloboma; Intellectual disability; Dysmorphism; Developmental delay | 2019-05-06 | criteria provided, single submitter | research | |
OMIM | RCV000855665 | SCV000998804 | pathogenic | Neurooculocardiogenitourinary syndrome | 2019-11-05 | no assertion criteria provided | literature only |