Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001363393 | SCV001559503 | likely benign | not provided | 2023-12-19 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001363393 | SCV003923410 | uncertain significance | not provided | 2023-05-05 | criteria provided, single submitter | clinical testing | In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge |
Natera, |
RCV001826025 | SCV002091570 | uncertain significance | Usher syndrome type 2A | 2020-01-24 | no assertion criteria provided | clinical testing |