Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001083412 | SCV000287642 | benign | Colorectal cancer, susceptibility to, 10 | 2024-01-28 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000759244 | SCV000520800 | likely benign | not provided | 2023-10-18 | criteria provided, single submitter | clinical testing | See Variant Classification Assertion Criteria. |
Ambry Genetics | RCV000565381 | SCV000670926 | likely benign | Hereditary cancer-predisposing syndrome | 2015-08-17 | 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. |
Eurofins Ntd Llc |
RCV000422949 | SCV000859727 | likely benign | not specified | 2018-02-23 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000759244 | SCV000888471 | benign | not provided | 2018-05-09 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000422949 | SCV002069442 | likely benign | not specified | 2022-01-04 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000565381 | SCV002534692 | likely benign | Hereditary cancer-predisposing syndrome | 2021-03-18 | criteria provided, single submitter | curation | |
Center for Genomic Medicine, |
RCV000422949 | SCV004026987 | likely benign | not specified | 2023-08-15 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000422949 | SCV004029435 | benign | not specified | 2023-07-13 | criteria provided, single submitter | clinical testing |