ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.1168del (p.Glu390fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics and Personalized Medicine Clinic, Tartu University Hospital RCV003229525 SCV003925771 likely pathogenic Lynch syndrome 1 no assertion criteria provided clinical testing Optic nerve glioma in anamnesis. Father, father`s sister`s daughter, father`s mother had colorectal cancer, father`s sister had gynaecological cancer, all except father`s mother had cancer at an early age. Father`s father had unknown cancer at an early age.

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