Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002540969 | SCV001065888 | likely benign | Deficiency of 3-hydroxyacyl-CoA dehydrogenase | 2023-12-26 | criteria provided, single submitter | clinical testing | |
Clinical Genomics, |
RCV003222173 | SCV003915753 | benign | Hyperinsulinemic hypoglycemia | criteria provided, single submitter | research | Potent mutations in HADH gene are associated with congenital hyperinsulinism, which leads to recurrent hypoglycemia. The condition is exacerbated by stress, fasting or excessive dietary protein. May respond well to diazoxide. However, the role of this particular variant rs143416676 in congenital hyperinsulinism is yet to be ascertained. |