Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics | RCV001288073 | SCV001474909 | likely benign | not provided | 2020-03-25 | criteria provided, single submitter | clinical testing | |
Clinical Genomics, |
RCV002319693 | SCV002604975 | benign | Maturity onset diabetes mellitus in young | criteria provided, single submitter | research | Mutations in HNF1A gene can predispose to MODY3. It is associated with both micro and macrovascular complications of diabetes, especially cardiovascular complications. Associated with glucosuria. May respond well to sulfonylureas. However, more evidence is required to confer the association of this particular variant rs765329757 with MODY3. | |
Labcorp Genetics |
RCV001288073 | SCV004675332 | likely benign | not provided | 2023-02-10 | criteria provided, single submitter | clinical testing |