Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001984616 | SCV002216311 | likely benign | Alagille syndrome due to a JAG1 point mutation | 2023-08-30 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002492002 | SCV002803983 | 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 | 2021-12-15 | criteria provided, single submitter | clinical testing |