Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000544799 | SCV000624881 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2023-11-27 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001190816 | SCV001358400 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-09-14 | criteria provided, single submitter | clinical testing | This variant causes a T to G nucleotide substitution at the +6 position of intron 6 of the MSH6 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 MSH6-related disorders in the literature. This variant has been identified in 3/250944 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. |
All of Us Research Program, |
RCV004003695 | SCV004834848 | uncertain significance | Lynch syndrome | 2023-10-06 | criteria provided, single submitter | clinical testing | This variant causes a T to G nucleotide substitution at the +6 position of intron 6 of the MSH6 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 MSH6-related disorders in the literature. This variant has been identified in 3/250944 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. |