ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.3556+6T>G

gnomAD frequency: 0.00001  dbSNP: rs767210715
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Total submissions: 3
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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, LLC DBA Color Health 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, National Institutes of Health 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.

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