Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000492990 | SCV000582242 | likely pathogenic | not provided | 2023-05-05 | 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: 34055512, 25865492, 30125339) |
Fulgent Genetics, |
RCV000763308 | SCV000893976 | likely pathogenic | Hypomyelinating leukodystrophy 10 | 2018-10-31 | criteria provided, single submitter | clinical testing |