Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV001253186 | SCV001428777 | pathogenic | Cardiac anomalies - developmental delay - facial dysmorphism syndrome | 2019-08-28 | criteria provided, single submitter | clinical testing | This variant was identified as de novo |