ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.1040C>T (p.Thr347Ile)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili RCV003486533 SCV004242148 likely pathogenic Colorectal cancer, hereditary nonpolyposis, type 2 2024-02-02 criteria provided, single submitter clinical testing The patient, who is heterozygous for the variant, has had breast cancer and melanoma. Her father also has melanoma.

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