Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000571794 | SCV000662358 | likely benign | Hereditary cancer-predisposing syndrome | 2017-04-20 | 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, |
RCV000571794 | SCV001346425 | likely benign | Hereditary cancer-predisposing syndrome | 2017-07-21 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001467333 | SCV001671357 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2023-05-02 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV004000866 | SCV004830437 | likely benign | Lynch syndrome | 2023-06-28 | criteria provided, single submitter | clinical testing |