Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
University of Washington Department of Laboratory Medicine, |
RCV000758632 | SCV000887389 | uncertain significance | Lynch syndrome | 2018-05-01 | criteria provided, single submitter | clinical testing | PMS2 NM_000535.5:c.195T>C has a 14.1% probability of pathogenicity based on combining prior probability from public data with a likelihood ratio of 0.16 to 1, generated from evidence of seeing this as a somatic mutation in a tumor with loss of heterozygosity at the PMS2 locus. See Shirts et al 2018, PMID 29887214. |
Ambry Genetics | RCV002422641 | SCV002718865 | likely benign | Hereditary cancer-predisposing syndrome | 2017-10-14 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: 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, |
RCV002422641 | SCV004359706 | likely benign | Hereditary cancer-predisposing syndrome | 2022-11-07 | criteria provided, single submitter | clinical testing |