Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Hudson |
RCV000761594 | SCV000891755 | likely pathogenic | Intellectual developmental disorder with dysmorphic facies and ptosis | 2018-08-31 | criteria provided, single submitter | research | ACMG codes: PVS1, PM2 |