Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001721462 | SCV000535115 | likely benign | not provided | 2018-12-06 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003766447 | SCV000562678 | likely benign | Familial adenomatous polyposis 1 | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000562381 | SCV000667313 | likely benign | Hereditary cancer-predisposing syndrome | 2015-06-01 | 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, |
RCV000562381 | SCV000681799 | likely benign | Hereditary cancer-predisposing syndrome | 2016-09-11 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV003387845 | SCV004099580 | likely benign | not specified | 2023-09-07 | criteria provided, single submitter | clinical testing |