Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003765262 | SCV000252913 | likely benign | Familial adenomatous polyposis 1 | 2024-01-17 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000219215 | SCV000274796 | likely benign | Hereditary cancer-predisposing syndrome | 2015-03-18 | 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. |
Color Diagnostics, |
RCV000219215 | SCV001339397 | likely benign | Hereditary cancer-predisposing syndrome | 2019-02-04 | criteria provided, single submitter | clinical testing | |
Center for Genomic Medicine, |
RCV002267928 | SCV002550605 | likely benign | not specified | 2023-08-15 | criteria provided, single submitter | clinical testing |