Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000623806 | SCV000740829 | pathogenic | Inborn genetic diseases | 2016-05-09 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV003333085 | SCV004041332 | pathogenic | Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome | 2023-04-26 | criteria provided, single submitter | clinical testing | |
Equipe Genetique des Anomalies du Developpement, |
RCV001260511 | SCV001437532 | likely pathogenic | CEBALID syndrome | 2020-09-01 | no assertion criteria provided | clinical testing |