Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000434896 | SCV000522436 | likely benign | not specified | 2017-08-03 | 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. |
Invitae | RCV000473613 | SCV000559175 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2024-01-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001013368 | SCV001173947 | likely benign | Hereditary cancer-predisposing syndrome | 2019-11-08 | 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, |
RCV001013368 | SCV001342121 | likely benign | Hereditary cancer-predisposing syndrome | 2018-11-27 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV001800669 | SCV002046742 | likely benign | not provided | 2021-03-16 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV004000366 | SCV004829752 | likely benign | Lynch syndrome | 2023-12-07 | criteria provided, single submitter | clinical testing |