Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000268055 | SCV000402442 | likely benign | Renal cysts and diabetes syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001582965 | SCV001811894 | likely benign | not provided | 2018-08-15 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV001820964 | SCV002072000 | benign | not specified | 2019-04-03 | criteria provided, single submitter | clinical testing | |
Clinical Genomics, |
RCV002464188 | SCV002605451 | 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 rs148442901, yet. |