Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Human Genetics, |
RCV000680590 | SCV000808015 | likely benign | Connective tissue disorder | 2018-06-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000690352 | SCV000818034 | likely benign | Adams-Oliver syndrome 5 | 2023-10-06 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000690352 | SCV002554457 | likely benign | Adams-Oliver syndrome 5 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002270961 | SCV002554458 | likely benign | Aortic valve disease 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003432725 | SCV004162029 | uncertain significance | not provided | 2022-07-01 | criteria provided, single submitter | clinical testing | NOTCH1: PP2, BP4 |