Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
International Society for Gastrointestinal Hereditary Tumours |
RCV000075360 | SCV000106354 | likely pathogenic | Lynch syndrome | 2019-06-21 | reviewed by expert panel | curation | Abrogated function (reduced expression in 2 independent assays) & 2 MSI-H tumours |
Myriad Genetics, |
RCV003451065 | SCV004185872 | likely pathogenic | Colorectal cancer, hereditary nonpolyposis, type 2 | 2023-07-21 | criteria provided, single submitter | clinical testing | This variant is considered likely pathogenic. Functional studies indicate this variant impacts protein function [PMID: 20020535, 31784484]. This variant has been reported in multiple individuals with clinical features of gene-specific disease [PMID: 16083711, 21404117]. This variant is expected to disrupt protein structure [Myriad internal data]. |