Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000470767 | SCV000541405 | likely benign | Werner syndrome | 2025-01-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV002469016 | SCV002765749 | uncertain significance | not provided | 2022-06-14 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 24728327) |
Department of Pathology and Laboratory Medicine, |
RCV000470767 | SCV006056104 | uncertain significance | Werner syndrome | 2022-09-12 | criteria provided, single submitter | research | |
ITMI | RCV000122308 | SCV000086537 | not provided | not specified | 2013-09-19 | no assertion provided | reference population |