Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000730832 | SCV000858596 | uncertain significance | not provided | 2017-12-11 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001855645 | SCV002224003 | likely benign | Alagille syndrome due to a JAG1 point mutation | 2024-01-12 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002493329 | SCV002778624 | 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 | 2022-02-12 | criteria provided, single submitter | clinical testing |