Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000030523 | SCV000053194 | uncertain | Renal cysts and diabetes syndrome | 2011-08-18 | criteria provided, single submitter | curation | Converted during submission to Uncertain significance. |
Athena Diagnostics Inc | RCV000516222 | SCV000613644 | uncertain significance | not specified | 2017-02-14 | criteria provided, single submitter | clinical testing | |
Clinical Genomics, |
RCV002464084 | SCV002738623 | uncertain significance | Maturity onset diabetes mellitus in young | criteria provided, single submitter | research | HNF1B gene mutations are associated with early onset diabetes and pancreatic atrophy. It is also associated with multiple renal manifestations including renal cysts, Tubulointerstitial disease, glomerulocystic disease, renal hypoplasia, hypomagnesemia. However no sufficient evidence is found to ascertain the role of this particular variant rs386134268, yet. |