Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000166406 | SCV000217200 | likely benign | Hereditary cancer-predisposing syndrome | 2014-10-15 | 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, |
RCV000166406 | SCV000689980 | likely benign | Hereditary cancer-predisposing syndrome | 2017-07-21 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000874895 | SCV001017129 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2024-01-07 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001577009 | SCV001804317 | likely benign | not provided | 2019-01-02 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV002271438 | SCV002556098 | likely benign | not specified | 2022-06-23 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV003995503 | SCV004833197 | likely benign | Lynch syndrome | 2023-05-04 | criteria provided, single submitter | clinical testing |