Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001296857 | SCV001485833 | benign | Adams-Oliver syndrome 5 | 2022-08-23 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001760339 | SCV001990385 | uncertain significance | not provided | 2023-05-18 | 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; This variant is associated with the following publications: (PMID: 36479692) |
Genome- |
RCV001296857 | SCV002553289 | uncertain significance | Adams-Oliver syndrome 5 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002271208 | SCV002553290 | uncertain significance | Aortic valve disease 1 | 2022-03-15 | criteria provided, single submitter | clinical testing |