Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
OMIM | RCV000680237 | SCV000807691 | pathogenic | THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | 2020-11-07 | no assertion criteria provided | literature only | |
Equipe Genetique des Anomalies du Developpement, |
RCV000680237 | SCV000965829 | likely pathogenic | THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | no assertion criteria provided | clinical testing |