Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000516896 | SCV000616344 | likely pathogenic | Pyruvate carboxylase deficiency | 2017-09-08 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000516896 | SCV004202801 | likely pathogenic | Pyruvate carboxylase deficiency | 2023-09-21 | criteria provided, single submitter | clinical testing |