Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
International Society for Gastrointestinal Hereditary Tumours |
RCV000075730 | SCV000106737 | pathogenic | Lynch syndrome | 2013-09-05 | reviewed by expert panel | research | Multifactorial likelihood analysis posterior probability >0.99 |
Myriad Genetics, |
RCV003452740 | SCV004188454 | likely pathogenic | Colorectal cancer, hereditary nonpolyposis, type 2 | 2023-07-14 | criteria provided, single submitter | clinical testing | This variant is considered likely pathogenic. Functional studies indicate this variant impacts protein function [PMID: 16083711]. This variant is expected to disrupt protein structure [Myriad internal data]. |