Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Clinical Genomics, |
RCV003221311 | SCV003915662 | likely 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 rs376591232 in congenital hyperinsulinism is yet to be ascertained. | |
| Illumina Laboratory Services, |
RCV001148372 | SCV001309262 | uncertain significance | Hyperinsulinemic hypoglycemia, familial, 4 | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
| Illumina Laboratory Services, |
RCV001148371 | SCV001309261 | uncertain significance | Deficiency of 3-hydroxyacyl-CoA dehydrogenase | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |