Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Equipe Genetique des Anomalies du Developpement, |
RCV000656397 | SCV000778404 | likely pathogenic | KBG syndrome | 2017-03-01 | criteria provided, single submitter | clinical testing | |
Institute of Medical Genetics and Applied Genomics, |
RCV001268382 | SCV001447272 | likely pathogenic | not provided | 2020-10-23 | criteria provided, single submitter | clinical testing |