Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV003733022 | SCV004521278 | likely benign | not provided | 2023-05-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003733022 | SCV005375736 | uncertain significance | not provided | 2023-11-13 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function |