Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001044255 | SCV001208042 | likely benign | Alagille syndrome due to a JAG1 point mutation | 2022-08-23 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002481911 | SCV002779227 | 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 | 2022-03-14 | criteria provided, single submitter | clinical testing |