Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000029267 | SCV000051913 | likely pathogenic | Hyperinsulinemic hypoglycemia, familial, 1 | 2011-08-18 | criteria provided, single submitter | curation | Converted during submission to Likely pathogenic. |
Clinical Genomics, |
RCV002243669 | SCV002513298 | uncertain significance | Maturity onset diabetes mellitus in young | criteria provided, single submitter | research | Mutations in ABCC8 gene are associated with both neonatal diabetes mellitus as well as MODY. Patients with this mutation may have a better response to sulfonylureas. However, no sufficient evidence is found to ascertain the role of this particular variant ( rs193922405) in MODY yet. | |
Clinical Genomics, |
RCV002243670 | SCV002513299 | uncertain significance | Transitory neonatal diabetes mellitus | criteria provided, single submitter | research | Mutations in ABCC8 gene are associated with both neonatal diabetes mellitus as well as MODY. Patients with this mutation may have a better response to sulfonylureas. However, no sufficient evidence is found to ascertain the role of this particular variant ( rs193922405) in neonatal diabetes yet. |