Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000438805 | SCV000523985 | likely benign | not specified | 2017-07-26 | 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 | RCV001088705 | SCV000625132 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2023-12-18 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000574993 | SCV000662041 | likely benign | Hereditary cancer-predisposing syndrome | 2016-03-02 | 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. |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000759082 | SCV000888177 | likely benign | not provided | 2020-01-20 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000574993 | SCV001352062 | likely benign | Hereditary cancer-predisposing syndrome | 2018-11-02 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000438805 | SCV001623138 | likely benign | not specified | 2021-05-08 | criteria provided, single submitter | clinical testing | |
Center for Genomic Medicine, |
RCV000438805 | SCV002760295 | likely benign | not specified | 2023-08-15 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV004000398 | SCV004843294 | likely benign | Lynch syndrome | 2023-05-23 | criteria provided, single submitter | clinical testing |