Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001066947 | SCV001231971 | benign | Adams-Oliver syndrome 5 | 2023-10-11 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001847146 | SCV002104423 | uncertain significance | not provided | 2023-08-21 | 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 does not alter protein structure/function |
Genome- |
RCV001066947 | SCV002553362 | uncertain significance | Adams-Oliver syndrome 5 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002271181 | SCV002553363 | uncertain significance | Aortic valve disease 1 | 2022-03-15 | criteria provided, single submitter | clinical testing |