Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000366002 | SCV000376712 | likely benign | Maturity-onset diabetes of the young type 3 | 2018-01-13 | criteria provided, single submitter | clinical testing | This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease. |
Genetic Services Laboratory, |
RCV000504238 | SCV000595126 | likely benign | not specified | 2016-02-22 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000861915 | SCV000722792 | likely benign | not provided | 2019-07-22 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 27659712, 30708140) |
Labcorp Genetics |
RCV000861915 | SCV001002332 | benign | not provided | 2024-01-11 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics | RCV000504238 | SCV001880079 | benign | not specified | 2020-09-29 | criteria provided, single submitter | clinical testing | |
Clinical Genomics, |
RCV002328811 | SCV002601576 | benign | Maturity onset diabetes mellitus in young | criteria provided, single submitter | research | Mutations in HNF1A gene can predispose to MODY3. It is associated with both micro and macrovascular complications of diabetes, especially cardiovascular complications. Associated with glucosuria. May respond well to sulfonylureas. However, more evidence is required to confer the association of this particular variant rs371365341 with MODY3. | |
Ambry Genetics | RCV002328811 | SCV002615526 | likely benign | Maturity onset diabetes mellitus in young | 2016-04-20 | 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. |
Ce |
RCV000861915 | SCV004010201 | likely benign | not provided | 2024-04-01 | criteria provided, single submitter | clinical testing | HNF1A: BP4, BP7 |
Prevention |
RCV003957594 | SCV004784126 | likely benign | HNF1A-related disorder | 2019-12-17 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
Breakthrough Genomics, |
RCV000861915 | SCV005218932 | likely benign | not provided | criteria provided, single submitter | not provided |