Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clinical Genomics, |
RCV003389036 | SCV004041823 | likely risk allele | Diabetes mellitus, permanent neonatal 4 | criteria provided, single submitter | research | Potent mutations in the 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. rs80356672 variant can affect insulin biosynthesis and could be a contributing factor to the increased risk of diabetes. However, the role of this particular variant in diabetes patients is yet to be ascertained | |
Gene |
RCV000020210 | SCV000040547 | not provided | Permanent neonatal diabetes mellitus | no assertion provided | literature only | ||
Uni |
RCV000020210 | SCV000091164 | not provided | Permanent neonatal diabetes mellitus | no assertion provided | not provided |