Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000645027 | SCV000766766 | benign | Alagille syndrome due to a JAG1 point mutation | 2023-10-13 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001662699 | SCV001874329 | benign | not provided | 2018-09-04 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 20096396) |