Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001491888 | SCV001696492 | likely benign | Pyruvate carboxylase deficiency | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV002509684 | SCV002818885 | uncertain significance | not provided | 2023-01-09 | criteria provided, single submitter | clinical testing | In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge |