ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.57C>A (p.Phe19Leu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV005246224 SCV005895006 benign Lynch syndrome 1 2024-12-02 criteria provided, single submitter clinical testing This variant is considered benign. This variant has been observed in trans with a known pathogenic variant in one or more individuals lacking clinical features consistent with gene-specific recessive disease. This variant is strongly associated with less severe personal and family histories of cancer, typical for individuals without pathogenic variants in this gene [PMID: 27363726].

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