Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000828188 | SCV000969871 | likely benign | not provided | 2018-06-06 | 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 | RCV000828188 | SCV001050529 | likely benign | not provided | 2024-01-04 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001272812 | SCV001455178 | uncertain significance | Usher syndrome type 1B | 2020-04-17 | no assertion criteria provided | clinical testing |