Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000437182 | SCV000528095 | likely benign | not specified | 2016-05-20 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Color Diagnostics, |
RCV001180014 | SCV001344839 | likely benign | Hereditary cancer-predisposing syndrome | 2019-06-18 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002525415 | SCV003478861 | likely benign | Familial adenomatous polyposis 1 | 2023-07-29 | criteria provided, single submitter | clinical testing | |
Myriad Genetics, |
RCV002525415 | SCV004930403 | likely benign | Familial adenomatous polyposis 1 | 2024-02-26 | criteria provided, single submitter | clinical testing | This variant is considered likely benign. This variant is intronic and is not expected to impact mRNA splicing. |