Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000214715 | SCV000273544 | likely benign | Hereditary cancer-predisposing syndrome | 2019-04-08 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: 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 |
RCV001697192 | SCV000534395 | likely benign | not provided | 2019-06-25 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000630359 | SCV000751315 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2023-12-22 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000214715 | SCV001343076 | likely benign | Hereditary cancer-predisposing syndrome | 2020-01-28 | criteria provided, single submitter | clinical testing |