Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000592331 | SCV000707694 | uncertain significance | not provided | 2017-04-11 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001345958 | SCV001540112 | likely benign | Alagille syndrome due to a JAG1 point mutation | 2023-12-20 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000592331 | SCV004149885 | likely benign | not provided | 2023-02-01 | criteria provided, single submitter | clinical testing | JAG1: BP4, BP7 |