Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute Of Human Genetics Munich, |
RCV000578336 | SCV000680258 | likely pathogenic | Beta-hydroxyisobutyryl-CoA deacylase deficiency | 2017-12-09 | criteria provided, single submitter | clinical testing |