Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000729098 | SCV000856737 | uncertain significance | not provided | 2017-09-05 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV001816796 | SCV002066308 | uncertain significance | not specified | 2019-03-29 | criteria provided, single submitter | clinical testing | |
Clinical Genomics, |
RCV002464300 | SCV002738624 | 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 rs200579660, yet. | |
Labcorp Genetics |
RCV000729098 | SCV003268435 | likely benign | not provided | 2024-01-13 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV000729098 | SCV005192826 | uncertain significance | not provided | criteria provided, single submitter | not provided |