Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000948580 | SCV001094795 | likely benign | not provided | 2023-12-30 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000948580 | SCV001805303 | uncertain significance | not provided | 2023-05-25 | criteria provided, single submitter | clinical testing | In silico analysis supports a deleterious effect on splicing; Located in a region that tolerates variation and lacks pathogenic variants; Has not been previously published as pathogenic or benign to our knowledge |