Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Bruce Lefroy Centre, |
RCV001072151 | SCV001235717 | likely pathogenic | Complex cortical dysplasia with other brain malformations 7 | 2020-01-01 | criteria provided, single submitter | research | PM2, PM6, PP2, PP3 |