Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Equipe Genetique des Anomalies du Developpement, |
RCV000677675 | SCV000803817 | likely pathogenic | Spondylocostal dysostosis 1, autosomal recessive | 2016-06-23 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000677675 | SCV002809784 | likely pathogenic | Spondylocostal dysostosis 1, autosomal recessive | 2021-08-25 | criteria provided, single submitter | clinical testing |