Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000866444 | SCV001007536 | likely benign | not provided | 2023-09-15 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002495262 | SCV002798475 | likely benign | Diabetes mellitus type 1; Type 1 diabetes mellitus 20; Maturity-onset diabetes of the young type 3; Type 2 diabetes mellitus; Hepatic adenomas, familial; Nonpapillary renal cell carcinoma | 2021-08-18 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV003489949 | SCV004240933 | likely benign | not specified | 2023-12-12 | criteria provided, single submitter | clinical testing | |
Clinical Genomics, |
RCV002464343 | SCV002605530 | pathogenic | Maturity onset diabetes mellitus in young | flagged submission | 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. Sufficient evidence is found to confer the association of this particular variant rs769086289 with MODY3. |