Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000117438 | SCV000309718 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Laboratory Services, |
RCV000321050 | SCV000415756 | likely benign | Maturity-onset diabetes of the young type 7 | 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 |
RCV001668243 | SCV001882920 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 15774581) |
Invitae | RCV001668243 | SCV002401865 | benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Clinical Genomics, |
RCV002250563 | SCV002520722 | likely risk allele | Type 2 diabetes mellitus | criteria provided, single submitter | research | KLF11 gene mutations are associated with MODY, however it needs further validation via clinical studies. This particular variant (rs35927125) of KLF11 gene can trigger Type II Diabetes Mellitus. However, more studies are required in different ethnic groups to ascertain its significance. | |
Genetic Services Laboratory, |
RCV000117438 | SCV000151639 | likely benign | not specified | no assertion criteria provided | clinical testing | Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed. |