Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000163967 | SCV000214566 | likely benign | Hereditary cancer-predisposing syndrome | 2022-12-30 | 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. |
Invitae | RCV000630344 | SCV000751300 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2023-09-29 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000163967 | SCV000908622 | likely benign | Hereditary cancer-predisposing syndrome | 2017-10-20 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV003995303 | SCV004840962 | likely benign | Lynch syndrome | 2023-12-01 | criteria provided, single submitter | clinical testing | |
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001727610 | SCV001971006 | benign | not specified | no assertion criteria provided | clinical testing |