Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
MGZ Medical Genetics Center | RCV000240176 | SCV002580637 | likely pathogenic | Maturity-onset diabetes of the young type 10 | 2022-01-20 | criteria provided, single submitter | clinical testing | |
Clinical Genomics, |
RCV000240176 | SCV004174198 | uncertain significance | Maturity-onset diabetes of the young type 10 | criteria provided, single submitter | research | Potent mutations in the INS gene can cause early onset diabetes mellitus which is insulin dependent. May have poor response to sulfonylureas, mutations in this gene can cause beta cell destruction.However, more evidence is required to confer the association of this particular variant rs886037863 with Maturity onset diabetes of the young (MODY). | |
Medical Genetics, |
RCV000240176 | SCV000298180 | likely pathogenic | Maturity-onset diabetes of the young type 10 | no assertion criteria provided | clinical testing |