Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Hudson |
RCV001281362 | SCV001468658 | likely pathogenic | Alagille syndrome due to a JAG1 point mutation | 2020-12-07 | criteria provided, single submitter | research | ACMG codes:PVS1, PM2 |