Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000602742 | SCV000724138 | likely benign | not specified | 2017-10-27 | 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 | RCV000939170 | SCV001085008 | likely benign | not provided | 2023-03-09 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001829721 | SCV002082080 | likely benign | Familial dysautonomia | 2018-12-31 | no assertion criteria provided | clinical testing |