Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000030533 | SCV000053204 | likely benign | Renal cysts and diabetes syndrome | 2011-08-18 | criteria provided, single submitter | curation | Converted during submission to Likely benign. |
Eurofins Ntd Llc |
RCV000345835 | SCV000334103 | benign | not specified | 2015-08-27 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000030533 | SCV000402436 | likely benign | Renal cysts and diabetes syndrome | 2017-04-27 | 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 |
RCV000345835 | SCV000513250 | benign | not specified | 2016-08-08 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Genetic Services Laboratory, |
RCV000345835 | SCV002071989 | benign | not specified | 2017-08-17 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV002054524 | SCV002448575 | benign | not provided | 2024-01-28 | criteria provided, single submitter | clinical testing | |
Clinical Genomics, |
RCV002250467 | SCV002520721 | uncertain significance | Maturity onset diabetes mellitus in young | criteria provided, single submitter | research | Mutations in HNF1B gene are generally 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 for the role of this particular variant (rs139107479) of HNF1B in Diabetes Mellitus or MODY yet. | |
Ambry Genetics | RCV002250467 | SCV002673082 | benign | Maturity onset diabetes mellitus in young | 2017-11-16 | criteria provided, single submitter | clinical testing | This alteration is classified as 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. |
Ce |
RCV002054524 | SCV004009785 | benign | not provided | 2023-04-01 | criteria provided, single submitter | clinical testing | HNF1B: BS1, BS2 |
KCCC/NGS Laboratory, |
RCV003315522 | SCV004015772 | benign | Nonpapillary renal cell carcinoma | 2023-07-07 | criteria provided, single submitter | clinical testing |