Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000217354 | SCV000273888 | likely benign | Hereditary cancer-predisposing syndrome | 2015-02-05 | 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. |
Gene |
RCV000828121 | SCV000969801 | likely benign | not provided | 2018-05-24 | 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 | RCV001087040 | SCV001083921 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2024-01-02 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000217354 | SCV001353599 | likely benign | Hereditary cancer-predisposing syndrome | 2018-11-16 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV001804955 | SCV002051065 | likely benign | not specified | 2021-12-12 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000828121 | SCV004221195 | likely benign | not provided | 2022-09-12 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV003997827 | SCV004836376 | likely benign | Lynch syndrome | 2023-12-01 | criteria provided, single submitter | clinical testing |