Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Undiagnosed Diseases Program Translational Research Laboratory, |
RCV000855660 | SCV000920634 | likely pathogenic | Congenital cerebellar hypoplasia; Epilepsy; Congenital ocular coloboma; Intellectual disability; Dysmorphism; Developmental delay | 2019-05-06 | criteria provided, single submitter | research | |
Laboratory of Medical Genetics, |
RCV000855666 | SCV002760100 | pathogenic | Neurooculocardiogenitourinary syndrome | 2022-11-29 | criteria provided, single submitter | research | |
Institute of Medical Genetics and Applied Genomics, |
RCV000855666 | SCV002765128 | likely pathogenic | Neurooculocardiogenitourinary syndrome | 2022-12-20 | criteria provided, single submitter | clinical testing | |
Equipe Genetique des Anomalies du Developpement, |
RCV000855666 | SCV004847233 | pathogenic | Neurooculocardiogenitourinary syndrome | 2022-07-18 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000855666 | SCV000998805 | pathogenic | Neurooculocardiogenitourinary syndrome | 2019-11-05 | no assertion criteria provided | literature only |