Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001414500 | SCV001616639 | likely benign | not provided | 2024-01-08 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001414500 | SCV001818019 | uncertain significance | not provided | 2021-08-13 | criteria provided, single submitter | clinical testing | In silico analysis, which includes splice predictors and evolutionary conservation, supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge |
Natera, |
RCV001280206 | SCV001467366 | uncertain significance | Usher syndrome type 1 | 2020-04-15 | no assertion criteria provided | clinical testing |