Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000391830 | SCV000402433 | likely benign | Renal cysts and diabetes syndrome | 2017-04-28 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |
Gene |
RCV001536935 | SCV001753751 | likely benign | not provided | 2020-02-14 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV001820963 | SCV002066863 | benign | not specified | 2021-04-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001536935 | SCV002353678 | benign | not provided | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Clinical Genomics, |
RCV002464013 | SCV002605441 | benign | 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 rs147218489, yet. | |
Ambry Genetics | RCV002464013 | SCV004076118 | likely benign | Maturity onset diabetes mellitus in young | 2023-07-01 | 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. |