Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000212669 | SCV000170357 | benign | not specified | 2014-02-18 | 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. |
Ambry Genetics | RCV000126829 | SCV000214663 | likely benign | Hereditary cancer-predisposing syndrome | 2014-08-28 | 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 | RCV001085489 | SCV000252627 | benign | Hereditary nonpolyposis colorectal neoplasms | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000126829 | SCV000685316 | benign | Hereditary cancer-predisposing syndrome | 2016-05-11 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000759139 | SCV000888265 | benign | not provided | 2019-08-20 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000212669 | SCV001468276 | benign | not specified | 2020-12-17 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000212669 | SCV002071723 | likely benign | not specified | 2020-03-05 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000126829 | SCV002535762 | likely benign | Hereditary cancer-predisposing syndrome | 2022-03-02 | criteria provided, single submitter | curation | |
KCCC/NGS Laboratory, |
RCV003315852 | SCV004016010 | benign | Lynch syndrome 5 | 2023-07-07 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV003997444 | SCV004840761 | benign | Lynch syndrome | 2024-02-05 | criteria provided, single submitter | clinical testing |