Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000694563 | SCV000823014 | benign | Alagille syndrome due to a JAG1 point mutation | 2023-07-07 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000732141 | SCV000860051 | uncertain significance | not provided | 2018-03-02 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002477575 | SCV002785785 | 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 | 2022-02-02 | criteria provided, single submitter | clinical testing |