Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Personalized Diabetes Medicine Program, |
RCV000445431 | SCV000537060 | likely benign | Monogenic diabetes | 2018-02-27 | criteria provided, single submitter | research | ACMG criteria: PP3 (2 predictors), BP4 (8 predictors), BP5 (found in case with other cause), BS1 (2.11% in ExAC African pop. and 1 hom in ExAC), Note: 9 het, 1 hom in TODAY (1% MAF)=likely benign |
Invitae | RCV000970199 | SCV001117767 | benign | not provided | 2024-01-26 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV001169303 | SCV001331990 | benign | Neonatal diabetes mellitus with congenital hypothyroidism | 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. |
Gene |
RCV000970199 | SCV002012728 | likely benign | not provided | 2021-03-06 | criteria provided, single submitter | clinical testing | |
Clinical Genomics, |
RCV002465653 | SCV002754512 | uncertain risk allele | Transitory neonatal diabetes mellitus | criteria provided, single submitter | research | Potent mutations in GLIS3 predisposes to neonatal diabetes mellitus with an extra pancreatic manifestation of hypothyroidism. It also predisposes to early onset diabetes in adults.However no sufficient evidence is found to ascertain the role of this particular variant rs146131512, yet. |