Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
International Society for Gastrointestinal Hereditary Tumours |
RCV000076362 | SCV000107388 | likely pathogenic | Lynch syndrome | 2019-06-21 | reviewed by expert panel | curation | Multifactorial likelihood analysis posterior probability 0.95-0.99 |
Myriad Genetics, |
RCV003452881 | SCV004186625 | likely pathogenic | Lynch syndrome 1 | 2023-08-09 | criteria provided, single submitter | clinical testing | This variant is considered likely pathogenic. Functional studies indicate this variant impacts protein function [PMID: 18822302, 22102614]. This variant is expected to disrupt protein structure [Myriad internal data]. |
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV001723648 | SCV001958894 | likely pathogenic | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001723648 | SCV001969054 | likely pathogenic | not provided | no assertion criteria provided | clinical testing |