Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Molecular Biology Laboratory, |
RCV001281138 | SCV001425094 | likely pathogenic | Renal cysts and diabetes syndrome | 2020-02-01 | criteria provided, single submitter | research | |
Clinical Genomics, |
RCV002465856 | SCV002754405 | likely risk allele | 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 rs2033692285, yet. |