Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000575240 | SCV000674256 | likely benign | Hereditary cancer-predisposing syndrome | 2017-04-13 | 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 | RCV000630280 | SCV000751236 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2023-06-22 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000575240 | SCV002530340 | likely benign | Hereditary cancer-predisposing syndrome | 2022-02-04 | criteria provided, single submitter | curation |