Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Department of Human Anatomy, |
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. |