Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV001525438 | SCV001735537 | likely pathogenic | Hereditary cancer-predisposing syndrome | 2020-05-26 | criteria provided, single submitter | clinical testing | This variant results in the loss of translation initiation codon of the MLH1 gene. Although functional studies have not been reported for this variant, it is expected to result in an absent or non-functional protein product. This variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Based on the available evidence, this variant is classified as Likely Pathogenic. |