Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001703535 | SCV000515567 | likely benign | not provided | 2020-10-18 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000569919 | SCV000669710 | likely benign | Hereditary cancer-predisposing syndrome | 2015-02-10 | 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, |
RCV000569919 | SCV000684955 | likely benign | Hereditary cancer-predisposing syndrome | 2016-11-03 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000877461 | SCV001020200 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2024-01-09 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV003996012 | SCV004833959 | likely benign | Lynch syndrome | 2023-06-26 | criteria provided, single submitter | clinical testing |