Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001703584 | SCV000518072 | likely benign | not provided | 2021-04-26 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000563159 | SCV000670834 | likely benign | Hereditary cancer-predisposing syndrome | 2017-01-19 | 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. |
Invitae | RCV000937301 | SCV001083084 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2023-10-28 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000563159 | SCV001360181 | likely benign | Hereditary cancer-predisposing syndrome | 2017-03-20 | criteria provided, single submitter | clinical testing |