ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.597del (p.Ser200fs)

dbSNP: rs1572716454
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Human Anatomy, Histology and Embryology;Department of Pathology, Peking University Health Science Center RCV000790733 SCV000882563 pathogenic Lynch syndrome no assertion criteria provided clinical testing The biallelic deletion in MSH6 (c.597delC) was found in 4 unrelated endometrioid endometrial cancer patients without known consanguinity, they distributed in different provinces of China. Each case carried this mutation presented a wide spectrum of tumors family history such as colorectal cancer, cervical adenocarcinoma, liver cancer, lung cancer and so on.

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