Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000215594 | SCV000276807 | likely benign | Hereditary cancer-predisposing syndrome | 2015-06-30 | 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. |
Invitae | RCV001087079 | SCV000285062 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2023-12-27 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000422386 | SCV000527166 | likely benign | not specified | 2017-01-03 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Color Diagnostics, |
RCV000215594 | SCV000691006 | likely benign | Hereditary cancer-predisposing syndrome | 2017-06-19 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000759195 | SCV000888388 | likely benign | not provided | 2017-10-11 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000759195 | SCV004163708 | likely benign | not provided | 2022-07-01 | criteria provided, single submitter | clinical testing | PMS2: BP4, BP7 |
All of Us Research Program, |
RCV003997989 | SCV004844243 | likely benign | Lynch syndrome | 2023-08-15 | criteria provided, single submitter | clinical testing |