Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Natera, |
RCV006644789 | SCV007533986 | pathogenic | Hereditary hyperinsulinism | 2024-08-13 | criteria provided, single submitter | clinical testing | The c.61delG variant in ABCC8 is a frameshift variant predicted to shift the reading frame beginning at codon 21 and leads to a stop codon 57 codons downstream. This variant is expected to result in nonsense mediated decay, truncation, or a dysfunctional protein product. This variant is rare in the general population with a frequency below the threshold expected for the associated phenotype(s). This variant has been observed in one or more individuals affected with the associated recessive disease, as either homozygous or compound heterozygous with a second variant (PMID: 34304300). Given the available evidence, this variant is classified as Pathogenic. |
| Neuberg Centre For Genomic Medicine, |
RCV002052035 | SCV006333655 | likely pathogenic | Hyperinsulinemic hypoglycemia, familial, 1 | criteria provided, single submitter | clinical testing | ||
| Baylor Genetics | RCV004572012 | SCV005058574 | pathogenic | Type 2 diabetes mellitus | 2024-03-28 | criteria provided, single submitter | clinical testing | |
| Molecular Genetics, |
RCV002052035 | SCV002318427 | likely pathogenic | Hyperinsulinemic hypoglycemia, familial, 1 | criteria provided, single submitter | clinical testing |