Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clinical Genomics, |
RCV002243634 | SCV002515422 | 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 (rs193929369) in MODY yet. | |
Clinical Genomics, |
RCV002243635 | SCV002515423 | 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 (rs193929369) in neonatal diabetes yet. | |
OMIM | RCV001089461 | SCV000029897 | pathogenic | Diabetes mellitus, permanent neonatal 3 | 2007-08-01 | no assertion criteria provided | literature only | |
Gene |
RCV000009679 | SCV000040644 | not provided | Permanent neonatal diabetes mellitus | no assertion provided | literature only |