ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.*1A>G

dbSNP: rs2085658957
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001181589 SCV001346766 uncertain significance Hereditary cancer-predisposing syndrome 2023-03-17 criteria provided, single submitter clinical testing This variant is located in the 3' untranslated region of the MLH1 gene. 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 not been identified 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 RCV004006749 SCV004822252 uncertain significance Lynch syndrome 2023-04-03 criteria provided, single submitter clinical testing This variant is located in the 3' untranslated region of the MLH1 gene. 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 not been identified 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.
Breakthrough Genomics, Breakthrough Genomics RCV004695127 SCV005187584 uncertain significance not provided criteria provided, single submitter not provided
Myriad Genetics, Inc. RCV005245744 SCV005895901 benign Colorectal cancer, hereditary nonpolyposis, type 2 2024-12-02 criteria provided, single submitter clinical testing This variant is considered benign. This variant occurs in the non-coding 3' untranslated region of the gene, and is not expected to impact protein function.

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