Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Equipe Genetique des Anomalies du Developpement, |
RCV000677640 | SCV000803770 | pathogenic | Zimmermann-Laband syndrome 1; Temple-Baraitser syndrome | 2017-08-04 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV001781489 | SCV002023208 | pathogenic | not provided | 2021-04-20 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000149910 | SCV000196761 | pathogenic | Temple-Baraitser syndrome | 2015-01-01 | no assertion criteria provided | literature only | |
Reparto di Fisiopatologia delle Malattie Genetiche, |
RCV000185590 | SCV000212228 | pathogenic | Zimmermann-Laband syndrome 1 | no assertion criteria provided | not provided | Converted during submission to Pathogenic. | |
OMIM | RCV000185590 | SCV000238499 | pathogenic | Zimmermann-Laband syndrome 1 | 2015-06-01 | no assertion criteria provided | literature only |