Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000205737 | SCV000260274 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2024-01-02 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001711980 | SCV000515974 | likely benign | not provided | 2020-09-24 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000580377 | SCV000685340 | likely benign | Hereditary cancer-predisposing syndrome | 2017-05-22 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000421482 | SCV000919749 | likely benign | not specified | 2019-08-29 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000580377 | SCV001178812 | likely benign | Hereditary cancer-predisposing syndrome | 2017-04-11 | 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. |
All of Us Research Program, |
RCV003997607 | SCV004839122 | likely benign | Lynch syndrome | 2023-06-26 | criteria provided, single submitter | clinical testing |