Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000506460 | SCV000601401 | uncertain significance | not specified | 2017-01-31 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001392293 | SCV001593935 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2020-09-20 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV004003543 | SCV004828817 | uncertain significance | Lynch syndrome | 2023-09-17 | criteria provided, single submitter | clinical testing | This variant causes a T to G nucleotide substitution at the -10 position of intron 5/18 of the MLH1 gene. Splice site prediction tools predict that this variant may have an impact on RNA splicing. To our knowledge, RNA studies have not been reported for this variant. This variant has not been reported in individuals affected with MLH1-related disorders in the literature. This variant has been identified in 2/251128 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance. |