Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
International Society for Gastrointestinal Hereditary Tumours |
RCV000076850 | SCV000108340 | pathogenic | Lynch syndrome | 2013-09-05 | reviewed by expert panel | research | Large deletion |
Department of Molecular Diagnosis and Cancer Prevention, |
RCV002305444 | SCV002600097 | pathogenic | Lynch syndrome 1 | 2022-11-08 | criteria provided, single submitter | clinical testing | This sequence change is frameshift variant introducing Premature Termination Codon. This variant has been detected in patients who developed MSI-H glioblastoma at age 10 or younger, along with another variant, PMS2(NM_000535.7): c.241G>T (p.Glu81*, phase unknown). The patient is considered constitutional mismatch repair deficiency (CMMRD). |