Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000193374 | SCV000246465 | uncertain significance | not specified | 2013-01-25 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000193374 | SCV000729063 | likely benign | not specified | 2018-02-15 | 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. |
Invitae | RCV002056982 | SCV002414095 | likely benign | not provided | 2023-12-28 | criteria provided, single submitter | clinical testing |