Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000168388 | SCV000219081 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2023-08-04 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000508172 | SCV000601440 | uncertain significance | not specified | 2017-07-25 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000568410 | SCV000669807 | likely benign | Hereditary cancer-predisposing syndrome | 2023-03-20 | 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, |
RCV000568410 | SCV000908271 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-06-13 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000568410 | SCV002534405 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-01-03 | criteria provided, single submitter | curation | |
Baylor Genetics | RCV003468832 | SCV004196242 | uncertain significance | Lynch syndrome 1 | 2023-09-21 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV003995625 | SCV004831972 | uncertain significance | Lynch syndrome | 2023-11-30 | criteria provided, single submitter | clinical testing |