Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clinical Genomics, |
RCV003445080 | SCV004174197 | likely risk allele | Type 2 diabetes mellitus | criteria provided, single submitter | research | Potent mutations in theINS 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.Sufficient evidence is found to confer the association of this particular variant C43G/ rs80356666 with Diabetes mellitus. | |
OMIM | RCV001089452 | SCV000034566 | pathogenic | Diabetes mellitus, permanent neonatal 4 | 2007-09-18 | no assertion criteria provided | literature only | |
Gene |
RCV000020204 | SCV000040541 | not provided | Permanent neonatal diabetes mellitus | no assertion provided | literature only | ||
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000030069 | SCV000052724 | not provided | Neonatal diabetes mellitus | 2015-10-02 | no assertion provided | clinical testing | |
Uni |
RCV000020204 | SCV000091149 | not provided | Permanent neonatal diabetes mellitus | no assertion provided | not provided |