Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Department of Pediatrics, |
RCV000844812 | SCV000966088 | likely pathogenic | Deficiency of acetyl-CoA acetyltransferase | 2019-05-05 | criteria provided, single submitter | research | |
Baylor Genetics | RCV000844812 | SCV004214633 | likely pathogenic | Deficiency of acetyl-CoA acetyltransferase | 2024-02-28 | criteria provided, single submitter | clinical testing |