Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000467939 | SCV000543537 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2023-11-05 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000662708 | SCV000785456 | uncertain significance | Colorectal cancer, hereditary nonpolyposis, type 2 | 2017-08-23 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001525125 | SCV001735152 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-11-06 | criteria provided, single submitter | clinical testing | This variant causes a T to G nucleotide substitution at the -6 position of intron 7 of the MLH1 gene. Splice site prediction tools suggest that this variant may not impact RNA splicing. To our knowledge, functional 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 1/251340 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. |
Myriad Genetics, |
RCV000662708 | SCV004018629 | likely benign | Colorectal cancer, hereditary nonpolyposis, type 2 | 2023-11-16 | criteria provided, single submitter | clinical testing | This variant is considered likely benign. This variant is intronic and is not expected to impact mRNA splicing. This variant is strongly associated with less severe personal and family histories of cancer, typical for individuals without pathogenic variants in this gene [PMID: 27363726]. |
All of Us Research Program, |
RCV004000652 | SCV004834959 | uncertain significance | Lynch syndrome | 2024-02-05 | criteria provided, single submitter | clinical testing | This variant causes a T to G nucleotide substitution at the -6 position of intron 7 of the MLH1 gene. Splice site prediction tools suggest that this variant may not impact RNA splicing. To our knowledge, functional 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 1/251340 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. |