Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000480881 | SCV000567248 | pathogenic | not provided | 2023-02-08 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 32003821, 11748843, 8993616, 27535533) |
Johns Hopkins Genomics, |
RCV000853230 | SCV000996046 | pathogenic | Adrenoleukodystrophy | 2019-07-31 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000853230 | SCV002045848 | pathogenic | Adrenoleukodystrophy | 2021-11-07 | criteria provided, single submitter | clinical testing |