Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
International Society for Gastrointestinal Hereditary Tumours |
RCV000075932 | SCV000106949 | likely pathogenic | Lynch syndrome | 2019-06-21 | reviewed by expert panel | curation | Multifactorial likelihood analysis posterior probability >0.99 |
Myriad Genetics, |
RCV003452789 | SCV004189273 | likely pathogenic | Colorectal cancer, hereditary nonpolyposis, type 2 | 2023-07-19 | criteria provided, single submitter | clinical testing | This variant is considered likely pathogenic. Functional studies indicate this variant impacts protein function [PMID: 17510385, 30504929, 31784484]. This variant has been reported in multiple individuals with clinical features of gene-specific disease [PMID: 10882759]. |
Constitutional Genetics Lab, |
RCV001250011 | SCV001423912 | likely pathogenic | Lynch-like syndrome | 2019-07-01 | no assertion criteria provided | clinical testing |