Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001369821 | SCV001566272 | likely benign | 3-methylglutaconic aciduria, type VIIB | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001561420 | SCV001784023 | uncertain significance | not provided | 2023-10-19 | 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 |