Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000167064 | SCV000217891 | likely benign | Hereditary cancer-predisposing syndrome | 2014-12-04 | 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 | RCV003765045 | SCV000562669 | likely benign | Familial adenomatous polyposis 1 | 2024-01-04 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000167064 | SCV000687019 | likely benign | Hereditary cancer-predisposing syndrome | 2016-11-21 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000587471 | SCV000694078 | likely benign | not specified | 2019-08-20 | criteria provided, single submitter | clinical testing | |
Center for Genomic Medicine, |
RCV000587471 | SCV004243225 | likely benign | not specified | 2024-02-06 | criteria provided, single submitter | clinical testing |