Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV000582402 | SCV000690130 | likely benign | Hereditary cancer-predisposing syndrome | 2017-02-16 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002061847 | SCV002434393 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2023-12-10 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000582402 | SCV002526745 | likely benign | Hereditary cancer-predisposing syndrome | 2021-11-05 | criteria provided, single submitter | curation | |
Ambry Genetics | RCV000582402 | SCV002673639 | likely benign | Hereditary cancer-predisposing syndrome | 2021-03-30 | 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, |
RCV004002335 | SCV004829149 | likely benign | Lynch syndrome | 2023-09-17 | criteria provided, single submitter | clinical testing |