ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.1731+3A>C

dbSNP: rs267607851
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002244294 SCV002512766 uncertain significance Colorectal cancer, hereditary nonpolyposis, type 2 2021-07-17 criteria provided, single submitter clinical testing ACMG classification criteria: PM2 moderate

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