ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.1998dup (p.Asp667Ter)

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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 RCV003229516 SCV003925766 likely pathogenic Lynch syndrome 1 no assertion criteria provided clinical testing The patient has CMMRD (published case: doi: 10.1080/0284186X.2016.1226516). Her half-brother from her mother`s side has NF1. Father`s mother had EC, and her son had CRC. Mother`s mother had leukaemia.

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