Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000926132 | SCV001071692 | likely benign | not provided | 2023-11-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000926132 | SCV005079565 | uncertain significance | not provided | 2024-06-11 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Natera, |
RCV001274694 | SCV001459061 | uncertain significance | Usher syndrome type 1B | 2020-01-24 | no assertion criteria provided | clinical testing |