Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000501794 | SCV000595239 | uncertain significance | not specified | 2017-02-02 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV002056851 | SCV002444852 | likely benign | not provided | 2024-01-19 | criteria provided, single submitter | clinical testing | |
Ce |
RCV002056851 | SCV002585265 | likely benign | not provided | 2022-08-01 | criteria provided, single submitter | clinical testing | INS: BP5, BS1 |
Clinical Genomics, |
RCV003446093 | SCV004174211 | likely benign | Type 2 diabetes mellitus | 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.Though rs571342427 is prevalent in Type Il Diabetes Mellitus cases, more evidence is required to ascertain the significance. |