Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000729056 | SCV000856692 | uncertain significance | not provided | 2017-09-19 | criteria provided, single submitter | clinical testing | |
Clinical Genomics, |
RCV002464299 | SCV002605567 | 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 rs776536485, yet. | |
Ambry Genetics | RCV002464299 | SCV003863687 | likely benign | Maturity onset diabetes mellitus in young | 2022-11-19 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |