Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000194390 | SCV000247551 | uncertain significance | not specified | 2015-05-28 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003229817 | SCV003927576 | uncertain significance | not provided | 2023-05-25 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |