Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mendelics | RCV000990972 | SCV001142046 | uncertain significance | Adrenoleukodystrophy | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001847123 | SCV002104463 | uncertain significance | not provided | 2022-02-25 | 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 |