ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.1668-9del

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002833014 SCV003207359 benign Hereditary nonpolyposis colorectal neoplasms 2022-06-07 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004007625 SCV004833212 uncertain significance Lynch syndrome 2023-06-26 criteria provided, single submitter clinical testing This variant causes a deletion of a single nucleotide at -9 position in intron 14 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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