Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001696920 | SCV000590776 | likely benign | not provided | 2018-06-04 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000498912 | SCV000859520 | likely benign | not specified | 2018-02-06 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001851388 | SCV002209897 | likely benign | Alagille syndrome due to a JAG1 point mutation | 2023-12-11 | criteria provided, single submitter | clinical testing |