ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.879C>G (p.Tyr293Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Human Genetics Bochum, Ruhr University Bochum RCV002463850 SCV002758567 likely pathogenic Lynch syndrome 1 2022-10-27 criteria provided, single submitter clinical testing ACMG criteria used to clasify this variant: PVS1, PM2
Human Genetics Bochum, Ruhr University Bochum RCV002508981 SCV002818310 likely pathogenic Hereditary nonpolyposis colorectal carcinoma 2022-10-27 criteria provided, single submitter clinical testing ACMG criteria used to clasify this variant: PVS1, PM2_SUP

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