Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000597523 | SCV000708208 | uncertain significance | not provided | 2017-05-02 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002476332 | SCV002779912 | uncertain significance | Alagille syndrome due to a NOTCH2 point mutation; Hajdu-Cheney syndrome | 2021-07-02 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003633519 | SCV004530755 | likely benign | Hajdu-Cheney syndrome | 2023-12-24 | criteria provided, single submitter | clinical testing |