Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000498620 | SCV000590475 | uncertain significance | not provided | 2023-05-17 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 26934580) |
Invitae | RCV002056828 | SCV002329787 | likely benign | ALG9 congenital disorder of glycosylation | 2024-01-26 | criteria provided, single submitter | clinical testing |