Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Equipe Genetique des Anomalies du Developpement, |
RCV001526560 | SCV001736985 | likely pathogenic | Microcephaly | criteria provided, single submitter | clinical testing | ||
Equipe Genetique des Anomalies du Developpement, |
RCV003151862 | SCV003840255 | likely pathogenic | Sandestig-stefanova syndrome | 2020-12-14 | criteria provided, single submitter | clinical testing | This variant was observed in compound heterozygosity with variant c.3515+1G>A |