Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000164255 | SCV000214879 | likely benign | Hereditary cancer-predisposing syndrome | 2015-11-19 | 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. |
Gene |
RCV001704195 | SCV000521579 | likely benign | not provided | 2020-06-26 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000541776 | SCV000624652 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000164255 | SCV000690204 | likely benign | Hereditary cancer-predisposing syndrome | 2017-07-26 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000164255 | SCV002535626 | likely benign | Hereditary cancer-predisposing syndrome | 2021-11-06 | criteria provided, single submitter | curation | |
All of Us Research Program, |
RCV003995330 | SCV004843621 | likely benign | Lynch syndrome | 2023-11-30 | criteria provided, single submitter | clinical testing |