Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001341202 | SCV001535057 | likely benign | Alagille syndrome due to a JAG1 point mutation | 2023-05-20 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002499675 | SCV002813464 | uncertain significance | Alagille syndrome due to a JAG1 point mutation; Tetralogy of Fallot; Deafness, congenital heart defects, and posterior embryotoxon; Charcot-Marie-Tooth disease, axonal, Type 2HH | 2022-02-07 | criteria provided, single submitter | clinical testing |