Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Equipe Genetique des Anomalies du Developpement, |
RCV001261987 | SCV001439347 | likely pathogenic | Hamartoma of hypothalamus | 2020-10-05 | criteria provided, single submitter | clinical testing | This variant was observed in compound heterozygosity with variant c.1198C>T |