Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clinical Genomics, |
RCV003389038 | SCV004041826 | likely risk allele | Diabetes mellitus, permanent neonatal 4 | criteria provided, single submitter | research | Potent mutations in INS gene can cause early onset diabetes mellitus which is insulin dependent. It may have poor response to sulfonylureas, as mutations in this gene can cause beta cell destruction. However, more evidence is required to confer the association of this particular variant rs121908276 with permanent neonatal diabetes mellitus. | |
Uni |
RCV000059613 | SCV000091162 | not provided | Permanent neonatal diabetes mellitus | no assertion provided | not provided |