Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
University of Washington Department of Laboratory Medicine, |
RCV000210193 | SCV000266194 | uncertain significance | Lynch syndrome | 2015-11-20 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000491646 | SCV000580584 | likely benign | Hereditary cancer-predisposing syndrome | 2018-08-13 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Color Diagnostics, |
RCV000491646 | SCV000911930 | uncertain significance | Hereditary cancer-predisposing syndrome | 2018-11-13 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000920254 | SCV001065616 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2023-08-09 | criteria provided, single submitter | clinical testing | |
Gene |
RCV004767155 | SCV005376752 | uncertain significance | not provided | 2023-10-30 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports a deleterious effect on splicing; Observed in an individual with colon cancer and polyps (PMID: 26845104); This variant is associated with the following publications: (PMID: 26845104) |