Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000655247 | SCV000777177 | benign | Adams-Oliver syndrome 5 | 2023-10-23 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001552731 | SCV001773473 | uncertain significance | not provided | 2023-09-13 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function |
Genome- |
RCV000655247 | SCV002553921 | uncertain significance | Adams-Oliver syndrome 5 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002270940 | SCV002553922 | uncertain significance | Aortic valve disease 1 | 2022-03-15 | criteria provided, single submitter | clinical testing |