ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.2047G>C (p.Gly683Arg)

dbSNP: rs267607995
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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. RCV003455975 SCV004186959 pathogenic Lynch syndrome 1 2023-08-07 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant is strongly associated with more severe personal and family histories of cancer, typical for individuals with pathogenic variants in this gene [PMID: 27363726].

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