Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000504293 | SCV000595235 | benign | not specified | 2016-10-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001683529 | SCV001903399 | benign | not provided | 2019-03-25 | criteria provided, single submitter | clinical testing | |
Clinical Genomics, |
RCV002464224 | SCV002605417 | benign | Neonatal insulin-dependent diabetes mellitus | criteria provided, single submitter | research | Mutations in INS gene can cause early onset diabetes mellitus which is insulin dependent. May have poor response to sulfonylureas, as this mutation can cause beta cell destruction. However no sufficient evidence is found to ascertain the role of this particular variant rs563630291, yet. |