ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.1130A>G (p.Lys377Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MVZ Medizinische Genetik Mainz RCV003991145 SCV004808465 uncertain significance Colorectal cancer, hereditary nonpolyposis, type 2 2022-04-13 criteria provided, single submitter clinical testing ACMG Criteria: PM2_MOD, PP4

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