ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.2104-4C>G

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003172124 SCV003858881 likely benign Hereditary cancer-predisposing syndrome 2022-11-23 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae RCV003779549 SCV004671084 likely benign Hereditary nonpolyposis colorectal neoplasms 2023-11-08 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004009642 SCV004831852 uncertain significance Lynch syndrome 2023-06-08 criteria provided, single submitter clinical testing This variant causes a C to G nucleotide substitution at the -4 position of intron 18 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.

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